ClinVar Miner

Submissions for variant NM_001256545.2(MEGF10):c.2330G>T (p.Arg777Leu)

dbSNP: rs565304206
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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 RCV000698056 SCV000826697 uncertain significance MEGF10-related myopathy 2018-05-21 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with MEGF10-related disease. This sequence change replaces arginine with leucine at codon 777 of the MEGF10 protein (p.Arg777Leu). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and leucine. This variant is not present in population databases (ExAC no frequency). 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.

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