Total submissions: 12
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Genomic Medicine Center of Excellence, |
RCV003989299 | SCV004807274 | uncertain significance | MYPN-related myopathy | 2024-03-26 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000219549 | SCV004241220 | likely benign | not specified | 2023-12-17 | criteria provided, single submitter | clinical testing | |
| Genomic Research Center, |
RCV000043543 | SCV000930499 | uncertain significance | Dilated cardiomyopathy 1KK | 2019-04-27 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000043543 | SCV000814868 | likely benign | Dilated cardiomyopathy 1KK | 2025-01-29 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV000621596 | SCV000736229 | likely benign | Cardiovascular phenotype | 2019-04-10 | 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. |
| Laboratory for Molecular Medicine, |
RCV000219549 | SCV000272186 | uncertain significance | not specified | 2017-05-18 | criteria provided, single submitter | clinical testing | The p.Val1195Met variant in MYPN has been reported in at least 2 individuals wit h DCM (Duboscq-Bidot 2008, LMM data). It has been reported in ClinVar (Variant I D: 31792) with conflicting interpretations. This variant has also been identifie d in 0.2% (53/24012) of African chromosomes by the Genome Aggregation Database ( gnomAD, http://gnomad.broadinstitute.org; dbSNP rs71534280). Computational predi ction tools and conservation analysis suggest that this variant may impact the p rotein, though this information is not predictive enough to determine pathogenic ity. A single in vitro functional study reports that the p.Val1195Met variant ma y impact protein function (Duboscq-Bidot 2008). However, these types of assays m ay not accurately represent biological function. In summary, the clinical signif icance of the p.Val1195Met variant is uncertain. |
| Gene |
RCV000024485 | SCV000236067 | likely benign | not provided | 2020-05-28 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 22892539, 22337857, 23299917, 18006477, 27896284) |
| Prevention |
RCV004730857 | SCV005338662 | likely benign | MYPN-related disorder | 2024-09-04 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
| Genome Diagnostics Laboratory, |
RCV000024485 | SCV001926413 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
| Clinical Genetics, |
RCV000024485 | SCV001917050 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
| OMIM | RCV000043543 | SCV000071256 | pathogenic | Dilated cardiomyopathy 1KK | 2008-01-01 | no assertion criteria provided | literature only | |
| Leiden Muscular Dystrophy |
RCV000024485 | SCV000045789 | not provided | not provided | 2012-04-27 | no assertion provided | curation |