ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3301G>A (p.Gly1101Ser) (rs367546859)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766444 SCV000208536 uncertain significance not provided 2018-05-18 criteria provided, single submitter clinical testing The G1101S variant of uncertain significance in the MYH7 gene has previously been reported in association with HCM and idiopathic ventricular fibrillation; however, detailed clinical information and segregation data were not provided (Curila et al., 2012; Visser et al., 2017). This variant was not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The G1101S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Although this substitution occurs at a position that is conserved in mammals, serine (S) is the wild-type amino acid at this position in at least one non-mammalian species. Furthermore, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.
Ambry Genetics RCV000250091 SCV000318275 uncertain significance Cardiovascular phenotype 2018-07-10 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000455124 SCV000539834 uncertain significance not specified 2016-04-25 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 1 report, no segs; ExAC: 1/8654 East Asian chromosomes
Invitae RCV000544518 SCV000623694 uncertain significance Hypertrophic cardiomyopathy 2019-11-27 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 1101 of the MYH7 protein (p.Gly1101Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs367546859, ExAC 0.01%). This variant has been reported in an individual affected with hypertrophic cardiomyopathy (PMID: 22455086). ClinVar contains an entry for this variant (Variation ID: 161325). 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.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000148706 SCV000987504 uncertain significance Primary familial hypertrophic cardiomyopathy criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000766444 SCV001149178 uncertain significance not provided 2017-04-01 criteria provided, single submitter clinical testing
Color RCV001175841 SCV001339612 uncertain significance Cardiomyopathy 2019-12-16 criteria provided, single submitter clinical testing
CSER _CC_NCGL, University of Washington RCV000148706 SCV000190436 uncertain significance Primary familial hypertrophic cardiomyopathy 2014-06-01 no assertion criteria provided research

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