ClinVar Miner

Submissions for variant NM_017534.6(MYH2):c.2488G>A (p.Val830Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV005208298 SCV005849262 uncertain significance Myopathy, proximal, and ophthalmoplegia 2023-06-22 criteria provided, single submitter clinical testing The missense variant c.2488G>A (p.Val830Ile) in the MYH2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in the gnomAD Exomes. The amino acid Val at position 830 is changed to a Ile changing protein sequence and it might alter its composition and physico-chemical properties. Multiple lines of computational evidence (SIFT - Damaging and MutationTaster - Disease causing) predict a damaging effect on protein structure and function for this variant. The amino acid change p.Val830Ile in MYH2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance

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