ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4941G>C (p.Gln1647His)

gnomAD frequency: 0.00001  dbSNP: rs749154313
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001342534 SCV001536471 uncertain significance Hypertrophic cardiomyopathy 2023-08-24 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MYH7 protein function. ClinVar contains an entry for this variant (Variation ID: 1039123). This missense change has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 23283745). This variant is present in population databases (rs749154313, gnomAD 0.02%). This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 1647 of the MYH7 protein (p.Gln1647His).
All of Us Research Program, National Institutes of Health RCV004005180 SCV004827805 uncertain significance Cardiomyopathy 2024-02-22 criteria provided, single submitter clinical testing This missense variant replaces glutamine with histidine at codon 1647 of the MYH7 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with hypertrophic cardiomyopathy (PMID: 23283745). This variant has been identified in 3/251324 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.

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