ClinVar Miner

Submissions for variant NM_017534.6(MYH2):c.1898-6C>T

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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 RCV003053227 SCV003452285 uncertain significance Myopathy, proximal, and ophthalmoplegia 2022-06-20 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with MYH2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change falls in intron 16 of the MYH2 gene. It does not directly change the encoded amino acid sequence of the MYH2 protein.

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