ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2822G>A (p.Arg941His)

gnomAD frequency: 0.00004  dbSNP: rs765458590
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788522 SCV000927671 uncertain significance not provided 2018-05-03 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001525515 SCV001735652 uncertain significance Cardiomyopathy 2023-03-16 criteria provided, single submitter clinical testing This missense variant replaces arginine with histidine at codon 941 of the MYH7 protein. Computational prediction suggests that this variant may have a deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals affected with hypertrophic cardiomyopathy (PMID: 33495597; DOI:10.3329/bsmmuj.v15i4.64154). This variant has been identified in 4/251494 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Invitae RCV002535779 SCV003501236 uncertain significance Hypertrophic cardiomyopathy 2023-07-10 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 636633). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 941 of the MYH7 protein (p.Arg941His). This variant is present in population databases (rs765458590, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with MYH7-related conditions. 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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