ClinVar Miner

Submissions for variant NM_017534.6(MYH2):c.3604C>T (p.His1202Tyr)

gnomAD frequency: 0.00001  dbSNP: rs764501722
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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 RCV000802623 SCV000942462 uncertain significance Myopathy, proximal, and ophthalmoplegia 2022-04-03 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MYH2-related conditions. This variant is present in population databases (rs764501722, gnomAD 0.007%). This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 1202 of the MYH2 protein (p.His1202Tyr). ClinVar contains an entry for this variant (Variation ID: 647995). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive.

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