ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.415G>T (p.Val139Leu)

dbSNP: rs2138684666
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001569706 SCV001793835 uncertain significance not provided 2019-03-06 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30847666, 23785128, 29447731)
Labcorp Genetics (formerly Invitae), Labcorp RCV002573208 SCV003442295 likely pathogenic Hypertrophic cardiomyopathy 2022-11-29 criteria provided, single submitter clinical testing 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 expected to disrupt MYH7 protein function. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1203603). This missense change has been observed in individuals with dilated cardiomyopathy and/or noncompaction cardiomyopathy (PMID: 23785128, 29447731, 30847666). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 139 of the MYH7 protein (p.Val139Leu).
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001569706 SCV001979535 likely pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001569706 SCV001980652 likely pathogenic not provided no assertion criteria provided clinical testing

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