ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2518C>A (p.Leu840Met)

dbSNP: rs730880747
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158544 SCV000208479 likely pathogenic not provided 2023-01-20 criteria provided, single submitter clinical testing Observed in a patient in published literature with restrictive cardiomyopathy who also had a variant in the MYBPC3 gene (Kostareva et al., 2016); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27662471, 27532257, 29300372, 35456187, 28831623)
Labcorp Genetics (formerly Invitae), Labcorp RCV003586155 SCV004296267 uncertain significance Hypertrophic cardiomyopathy 2022-12-09 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 840 of the MYH7 protein (p.Leu840Met). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with restrictive cardiomyopathy (PMID: 27662471). ClinVar contains an entry for this variant (Variation ID: 181193). 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 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.

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