ClinVar Miner

Submissions for variant NM_001256545.2(MEGF10):c.524G>A (p.Gly175Asp)

gnomAD frequency: 0.00002  dbSNP: rs764487174
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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 RCV001878567 SCV002127377 uncertain significance MEGF10-related myopathy 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 175 of the MEGF10 protein (p.Gly175Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is present in population databases (rs764487174, ExAC 0.03%). This variant has not been reported in the literature in individuals affected with MEGF10-related conditions. 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. 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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