ClinVar Miner

Submissions for variant NM_014000.3(VCL):c.2801C>T (p.Ala934Val) (rs16931179)

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Total submissions: 10
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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 RCV000126282 SCV000051510 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038816 SCV000062494 benign not specified 2012-04-03 criteria provided, single submitter clinical testing Ala934Val in exon 19 of VCL: This variant is not expected to have clinical signi ficance because it has been identified in 2.5% (54/2160) chromosomes from a broa d, though clinically unspecified population (dbSNP rs16931179; 1000 Genomes proj ect).
GeneDx RCV000038816 SCV000169783 benign not specified 2012-10-03 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.
PreventionGenetics,PreventionGenetics RCV000038816 SCV000312012 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000242411 SCV000317741 benign Cardiovascular phenotype 2015-06-19 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Clinical Services Laboratory,Illumina RCV000458558 SCV000364941 likely benign 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000458558 SCV000559711 benign Dilated cardiomyopathy 1W 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000038816 SCV000702980 benign not specified 2016-11-17 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769116 SCV000900490 benign Cardiomyopathy 2015-11-19 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000709873 SCV000840210 not provided Dilated cardiomyopathy 1W; Familial hypertrophic cardiomyopathy 15 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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