ClinVar Miner

Submissions for variant NM_017534.6(MYH2):c.508C>T (p.Arg170Ter)

gnomAD frequency: 0.00003  dbSNP: rs750232956
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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 RCV001949286 SCV002243016 pathogenic Myopathy, proximal, and ophthalmoplegia 2023-11-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg170*) in the MYH2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MYH2 are known to be pathogenic (PMID: 20418530, 23388406, 24193343). This variant is present in population databases (rs750232956, gnomAD 0.009%). 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: 1457602). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001949286 SCV003809480 uncertain significance Myopathy, proximal, and ophthalmoplegia 2019-03-05 criteria provided, single submitter clinical testing

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