ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.2957G>A (p.Gly986Glu)

dbSNP: rs1369680809
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852451 SCV000995143 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2017-08-30 criteria provided, single submitter clinical testing
GeneDx RCV001766767 SCV001998571 uncertain significance not provided 2019-11-25 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 691661; Landrum et al., 2016); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Labcorp Genetics (formerly Invitae), Labcorp RCV001858507 SCV002181600 uncertain significance Hypertrophic cardiomyopathy 14 2022-11-22 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MYH6 protein function. ClinVar contains an entry for this variant (Variation ID: 691661). This variant has not been reported in the literature in individuals affected with MYH6-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 986 of the MYH6 protein (p.Gly986Glu).

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