Total submissions: 17
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Department of Pathology and Laboratory Medicine, |
RCV000531082 | SCV006053251 | likely benign | Glycogen storage disease, type II | 2015-12-29 | criteria provided, single submitter | clinical testing | |
| Breakthrough Genomics, |
RCV000078177 | SCV005214223 | likely benign | not provided | criteria provided, single submitter | not provided | ||
| Ambry Genetics | RCV002426487 | SCV002741448 | benign | Cardiovascular phenotype | 2015-12-28 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| Gene |
RCV000078177 | SCV001894237 | benign | not provided | 2018-01-04 | criteria provided, single submitter | clinical testing | Associated with pseudodeficiency of alpha-glucosidase enzyme. Homozygosity for D91N or compound heterozygosity for D91N and a pathogenic variant results in low enzyme activity but no clinical symptoms of Pompe disease (Martiniuk et al., 1990; Tajima et al., 2007; Kroos et al., 2008); This variant is associated with the following publications: (PMID: 31301153, 29181627, 25998610, 20080426, 2203258) |
| Genome- |
RCV000531082 | SCV001737357 | benign | Glycogen storage disease, type II | 2021-06-10 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV000531082 | SCV001287673 | likely benign | Glycogen storage disease, type II | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
| ARUP Laboratories, |
RCV000531082 | SCV001159130 | benign | Glycogen storage disease, type II | 2024-11-21 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000531082 | SCV000626594 | other | Glycogen storage disease, type II | 2019-01-02 | criteria provided, single submitter | clinical testing | |
| Prevention |
RCV000117106 | SCV000302684 | benign | not specified | criteria provided, single submitter | clinical testing | ||
| Eurofins Ntd Llc |
RCV000078177 | SCV000110015 | other | not provided | 2017-12-14 | criteria provided, single submitter | clinical testing | |
| Genome |
RCV000531082 | SCV002074839 | not provided | Glycogen storage disease, type II | no assertion provided | phenotyping only | Variant interpreted as Benign, Pseudo-deficiency allele and reported, most recently on 12-16-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. | |
| Genome |
RCV000531082 | SCV001749872 | not provided | Glycogen storage disease, type II | no assertion provided | phenotyping only | Variant interpreted as Benign and reported on 08-27-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. | |
| Genome |
RCV000078177 | SCV001749821 | not provided | not provided | flagged submission | phenotyping only | Variant reported in multiple Invitae PIN participants. Variant interpreted as Benign (Pseudo deficiency allele) most recently on 10/30/2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. | |
| Natera, |
RCV000531082 | SCV001463470 | benign | Glycogen storage disease, type II | 2020-06-03 | no assertion criteria provided | clinical testing | |
| Stanford Center for Inherited Cardiovascular Disease, |
RCV000078177 | SCV000925080 | benign | not provided | 2017-06-02 | no assertion criteria provided | provider interpretation | The GAA gene is associated with Pompe disease; however, this variant is not associated with disease. It is known to interfere with assays for GAA enzyme activity and is therefore called a "pseudodeficiency allele". Even individuals with two copies of this variant do not have Pompe disease. |
| Genetic Services Laboratory, |
RCV000117106 | SCV000151258 | likely benign | not specified | no assertion criteria provided | clinical testing | Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. | |
| OMIM | RCV000004235 | SCV000024401 | benign | Acid alpha-glucosidase, allele 2 | 2012-10-28 | no assertion criteria provided | literature only |