ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.488A>C (p.Gln163Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002511771 SCV002822126 likely pathogenic not provided 2022-12-01 criteria provided, single submitter clinical testing MYH7: PM2, PS4:Moderate, PP2, PP3
Labcorp Genetics (formerly Invitae), Labcorp RCV003586379 SCV004296305 uncertain significance Hypertrophic cardiomyopathy 2023-01-14 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 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. This missense change has been observed in individual(s) with MYH7-related conditions (PMID: 26025024, 27788187). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 163 of the MYH7 protein (p.Gln163Pro).

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