ClinVar Miner

Submissions for variant NM_017534.6(MYH2):c.2061T>C (p.Pro687=)

dbSNP: rs2073469824
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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 RCV001217265 SCV001389099 uncertain significance Myopathy, proximal, and ophthalmoplegia 2019-05-10 criteria provided, single submitter clinical testing This sequence change affects codon 687 of the MYH2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MYH2 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MYH2-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. 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.

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