ClinVar Miner

Submissions for variant NM_017534.6(MYH2):c.4376T>C (p.Leu1459Pro)

gnomAD frequency: 0.00003  dbSNP: rs765135888
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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 RCV000641882 SCV000763532 uncertain significance Myopathy, proximal, and ophthalmoplegia 2017-11-16 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with MYH2-related disease. This sequence change replaces leucine with proline at codon 1459 of the MYH2 protein (p.Leu1459Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is present in population databases (rs765135888, ExAC 0.001%). 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Revvity Omics, Revvity RCV000641882 SCV003809489 uncertain significance Myopathy, proximal, and ophthalmoplegia 2019-05-23 criteria provided, single submitter clinical testing

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