ClinVar Miner

Submissions for variant NM_020884.7(MYH7B):c.824G>A (p.Arg275Gln)

gnomAD frequency: 0.00001  dbSNP: rs762071988
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001929433 SCV002200999 uncertain significance not provided 2022-09-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 317 of the MYH7B protein (p.Arg317Gln). This variant is present in population databases (rs762071988, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with MYH7B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1426481). 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 MYH7B 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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