ClinVar Miner

Submissions for variant NM_014000.3(VCL):c.492T>G (p.Leu164=)

gnomAD frequency: 0.00033  dbSNP: rs143702799
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152641 SCV000201975 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Leu164Leu in Exon 04 of VCL: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence. It has been identified in 2/7020 European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs143702799).
Invitae RCV000229322 SCV000289919 benign Dilated cardiomyopathy 1W 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000243984 SCV000319702 benign Cardiovascular phenotype 2016-01-11 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
Illumina Laboratory Services, Illumina RCV000229322 SCV000364915 uncertain significance Dilated cardiomyopathy 1W 2018-01-13 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001529639 SCV001157008 benign not provided 2020-03-27 criteria provided, single submitter clinical testing
GeneDx RCV001529639 SCV001941454 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529639 SCV001743434 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000152641 SCV001918762 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001529639 SCV001927351 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001529639 SCV001974784 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001529639 SCV001979582 likely benign not provided no assertion criteria provided clinical testing

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