Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172082 | SCV000051030 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
ARUP Laboratories, |
RCV000172082 | SCV000604433 | uncertain significance | not provided | 2017-05-26 | criteria provided, single submitter | clinical testing | The p.Arg1312Trp variant (rs142354704) has been previously observed in a single individual included in a large cohort of cardiomyopathy patients (Ng 2013) and is listed in the ClinVar database as a variant of uncertain significance (Variation ID: 191760). It is listed in the Genome Aggregation Database (gnomAD) browser with a frequency in East Asian populations of 0.25% (identified in 48 out of 18,870 chromosomes). The arginine at codon 1312 is moderately conserved considering 11 species (Alamut software v2.9), and computational analyses return mixed results regarding the effect of this variant on MYPN protein structure/function (SIFT: damaging, PolyPhen2: benign, and Mutation Taster: disease causing). Thus, based on the available information, the clinical significance of the p.Arg1312Trp variant cannot be determined with certainty. |
Ambry Genetics | RCV000620740 | SCV000735911 | likely benign | Cardiovascular phenotype | 2020-08-13 | 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. |
Labcorp Genetics |
RCV001089060 | SCV000816288 | likely benign | Dilated cardiomyopathy 1KK | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000172082 | SCV001820862 | likely benign | not provided | 2020-01-21 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 30847666, 23861362) |
Revvity Omics, |
RCV000172082 | SCV003810992 | uncertain significance | not provided | 2020-12-28 | criteria provided, single submitter | clinical testing | |
Clinical Center for Gene Diagnosis and Therapy, |
RCV003319183 | SCV003932377 | uncertain significance | Primary dilated cardiomyopathy | 2023-06-01 | criteria provided, single submitter | clinical testing |