ClinVar Miner

Submissions for variant NM_000258.2(MYL3):c.235G>A (p.Val79Ile) (rs150634297)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000527113 SCV000623767 uncertain significance Hypertrophic cardiomyopathy 2020-11-02 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 79 of the MYL3 protein (p.Val79Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs150634297, ExAC 0.01%). This variant has been reported to segregate with a mild form of late-onset hypertrophic cardiomyopathy (PMID: 22957257). ClinVar contains an entry for this variant (Variation ID: 161329). 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.
Color Health, Inc RCV000777873 SCV000913880 uncertain significance Cardiomyopathy 2020-01-22 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000777873 SCV001333536 uncertain significance Cardiomyopathy 2017-11-24 criteria provided, single submitter clinical testing
CSER _CC_NCGL, University of Washington RCV000148716 SCV000190447 likely pathogenic Primary familial hypertrophic cardiomyopathy 2014-06-01 no assertion criteria provided research

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