ClinVar Miner

Submissions for variant NM_017534.6(MYH2):c.1763T>C (p.Val588Ala)

gnomAD frequency: 0.00001  dbSNP: rs753668463
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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 RCV001874945 SCV002145208 uncertain significance Myopathy, proximal, and ophthalmoplegia 2022-05-12 criteria provided, single submitter clinical testing 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with MYH2-related conditions. This variant is present in population databases (rs753668463, gnomAD 0.02%). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 588 of the MYH2 protein (p.Val588Ala).
Ambry Genetics RCV002551676 SCV003643288 uncertain significance Inborn genetic diseases 2022-09-06 criteria provided, single submitter clinical testing The c.1763T>C (p.V588A) alteration is located in exon 16 (coding exon 14) of the MYH2 gene. This alteration results from a T to C substitution at nucleotide position 1763, causing the valine (V) at amino acid position 588 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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