ClinVar Miner

Submissions for variant NM_014000.3(VCL):c.1317T>C (p.Ser439=)

gnomAD frequency: 0.00442  dbSNP: rs71579355
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Total submissions: 14
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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 RCV000038793 SCV000062471 benign not specified 2012-03-16 criteria provided, single submitter clinical testing Ser439Ser in exon 10 of VCL: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and has been identified in 0.5% (37/7020) of European American chromosomes from a broad population by t he NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs715 79355).
GeneDx RCV000038793 SCV000169794 benign not specified 2014-01-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000038793 SCV000225014 benign not specified 2015-03-12 criteria provided, single submitter clinical testing
Invitae RCV000231042 SCV000289905 benign Dilated cardiomyopathy 1W 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000253399 SCV000318997 benign Cardiovascular phenotype 2016-09-01 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769108 SCV000900481 benign Cardiomyopathy 2017-02-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001528563 SCV001156926 benign not provided 2023-11-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000231042 SCV001262539 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.
CeGaT Center for Human Genetics Tuebingen RCV001528563 SCV004009988 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing VCL: BP4, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528563 SCV001740481 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000038793 SCV001923396 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001528563 SCV001930838 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000038793 SCV001955803 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001528563 SCV001971896 likely benign not provided no assertion criteria provided clinical testing

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