ClinVar Miner

Submissions for variant NM_014000.3(VCL):c.1157A>G (p.Lys386Arg)

dbSNP: rs200342284
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172499 SCV000051350 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000172499 SCV000236487 likely benign not provided 2021-02-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23861362)
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000183993 SCV000271183 likely benign not specified 2015-03-11 criteria provided, single submitter clinical testing p.Lys386Arg in exon 9 of VCL: This variant is not expected to have clinical sign ificance it has been identified in 0.5% (90/16464) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP r s200342284).
Labcorp Genetics (formerly Invitae), Labcorp RCV001088622 SCV000559721 benign Dilated cardiomyopathy 1W 2024-01-28 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001171112 SCV001333791 benign Cardiomyopathy 2018-03-29 criteria provided, single submitter clinical testing
Genetics and Genomics Program, Sidra Medicine RCV001293124 SCV001434114 likely benign Primary dilated cardiomyopathy criteria provided, single submitter research
Ambry Genetics RCV002354442 SCV002622826 likely benign Cardiovascular phenotype 2018-10-10 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.
PreventionGenetics, part of Exact Sciences RCV003975249 SCV004790397 likely benign VCL-related disorder 2023-03-14 criteria provided, single submitter 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).

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