ClinVar Miner

Submissions for variant NM_017534.6(MYH2):c.3901G>T (p.Glu1301Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathophysiology and Transplantation, University of Milan RCV004720593 SCV005324804 pathogenic Myopathy, proximal, and ophthalmoplegia 2024-09-01 criteria provided, single submitter clinical testing The homozygous c.3901G>T variant in exon 29 of MYH2 gene causes a premature stop codon p.(Glu1301*), resulting in a drastic loss of expression of MyHC IIa mRNA as well as of MYH2 protein. The variant was found in an Italian patient presenting Congenital Myopathy-6 with ophthalmoplegia (CMYP6) Considering the mutation type, its absence from control databases, its recessive inheritance (supported by consanguinity between patient’s parents) and evidence of its impact on MYH2 transcript and protein levels, the c.3901G>T variant can be re-classified as Pathogenic (PVS1, PS3, PM2).

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