ClinVar Miner

Submissions for variant NM_014000.2(VCL):c.829C>A (p.Leu277Met) (rs71579353)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617420 SCV000736662 uncertain significance Cardiovascular phenotype 2016-08-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000645321 SCV000767064 uncertain significance Dilated cardiomyopathy 1W 2018-10-31 criteria provided, single submitter clinical testing This sequence change replaces leucine with methionine at codon 277 of the VCL protein (p.Leu277Met). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and methionine. This variant is present in population databases (rs71579353, ExAC 0.009%). This variant has been observed in individuals affected with hypertrophic cardiomyopathy (PMID: 16712796, 27930701, 24503780). ClinVar contains an entry for this variant (Variation ID: 12198). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Center for Human Genetics,University of Leuven RCV000768535 SCV000886854 uncertain significance Hypertrophic cardiomyopathy 2018-10-31 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845477 SCV000987572 uncertain significance Familial dilated cardiomyopathy criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000994445 SCV001147974 likely benign not provided 2017-06-01 criteria provided, single submitter clinical testing
OMIM RCV000012982 SCV000033227 pathogenic Familial hypertrophic cardiomyopathy 15 2006-07-07 no assertion criteria provided literature only

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