Total submissions: 9
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Athena Diagnostics | RCV000039843 | SCV005621897 | likely benign | not specified | 2024-10-16 | criteria provided, single submitter | clinical testing | |
| Revvity Omics, |
RCV001509175 | SCV003819101 | uncertain significance | not provided | 2019-12-02 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002408527 | SCV002675678 | likely benign | Cardiovascular phenotype | 2020-07-14 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |
| Mayo Clinic Laboratories, |
RCV001509175 | SCV001715739 | uncertain significance | not provided | 2021-02-24 | criteria provided, single submitter | clinical testing | |
| CHEO Genetics Diagnostic Laboratory, |
RCV000769835 | SCV000901261 | benign | Cardiomyopathy | 2019-09-06 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000464810 | SCV000542306 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2018-01-23 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV001509175 | SCV000237979 | likely benign | not provided | 2020-03-10 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 25163546) |
| Laboratory for Molecular Medicine, |
RCV000039843 | SCV000063534 | uncertain significance | not specified | 2013-06-27 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The Cys33350Tyr var iant in TTN has been identified by our laboratory in 1 Black individual with iso lated right atrial enlargement and 1 Black individual with HCM (LMM unpublished data). It has also been identified in 1.1% (2/176) of Yoruba chromosomes by the 1000 Genomes Project (dbSNP rs193212275) and 0.1% (4/3778) of African American c hromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/E VS/). Computational analyses (biochemical amino acid properties, conservation, P olyPhen2, and SIFT) suggest that this variant may impact the protein, though thi s information is not predictive enough to determine pathogenicity. Although the frequency of this variant suggests that it may be more likely benign, it is too low to confidently rule out a disease-causing role. Additional studies are neede d to fully assess the clinical significance of this variant. |
| Prevention |
RCV004534848 | SCV004727565 | uncertain significance | TTN-related disorder | 2023-10-27 | no assertion criteria provided | clinical testing | The TTN c.107753G>A variant is predicted to result in the amino acid substitution p.Cys35918Tyr. This variant has been reported in an individual with dilated cardiomyopathy (Table S6, Haas et al. 2015. PubMed ID: 25163546). This variant is reported in 0.11% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179391962-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |