ClinVar Miner

Submissions for variant NM_017534.6(MYH2):c.3002del (p.Glu1001fs)

dbSNP: rs797045096
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000190605 SCV000245639 likely pathogenic Myopathy, proximal, and ophthalmoplegia 2014-12-22 criteria provided, single submitter clinical testing The Glu1001GlyfsX26 variant in MYH2 has not been previously reported in individuals with disease. Data from large population studies is insufficient to assess the frequency of this variant. This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 1001 and leads to a premature termination codon 26 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Homozygous and compound heterozygous truncating variants in MYH2 have been shown to cause autosomal recessive myopathy with external ophthalmoplegia. In summary, although additional studies are required to fully establish its clinical significance, the p.Glu1001GlyfsX26 variant is likely pathogenic.

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