ClinVar Miner

Submissions for variant NM_017534.6(MYH2):c.731C>T (p.Ser244Phe)

gnomAD frequency: 0.00003  dbSNP: rs201044964
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000703549 SCV000832452 uncertain significance Myopathy, proximal, and ophthalmoplegia 2024-06-24 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 244 of the MYH2 protein (p.Ser244Phe). This variant is present in population databases (rs201044964, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with MYH2-related conditions. ClinVar contains an entry for this variant (Variation ID: 580104). 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 MYH2 protein function with a positive predictive value of 80%. 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.
Revvity Omics, Revvity RCV000703549 SCV003809472 uncertain significance Myopathy, proximal, and ophthalmoplegia 2019-10-07 criteria provided, single submitter clinical testing
GeneDx RCV005092038 SCV005848659 uncertain significance not provided 2024-08-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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