ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.212T>C (p.Val71Ala)

gnomAD frequency: 0.00002  dbSNP: rs769686237
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000268671 SCV000385813 uncertain significance Atrial septal defect 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000328446 SCV000385814 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000383513 SCV000385815 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000685753 SCV000813250 uncertain significance Hypertrophic cardiomyopathy 14 2023-09-04 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 71 of the MYH6 protein (p.Val71Ala). This variant is present in population databases (rs769686237, gnomAD 0.003%). This missense change has been observed in individual(s) with dilated cardiomyopathy (PMID: 28416588). ClinVar contains an entry for this variant (Variation ID: 312883). 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. 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.
GeneDx RCV001753772 SCV001985748 uncertain significance not provided 2022-11-02 criteria provided, single submitter clinical testing Reported in association with DCM (Dal Ferro et al., 2017); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28416588)
Fulgent Genetics, Fulgent Genetics RCV002487385 SCV002787748 uncertain significance Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2021-11-04 criteria provided, single submitter clinical testing

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