ClinVar Miner

Submissions for variant NM_001256545.2(MEGF10):c.1514G>A (p.Gly505Glu)

gnomAD frequency: 0.00007  dbSNP: rs199699950
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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 RCV000706988 SCV000836064 uncertain significance MEGF10-related myopathy 2020-10-14 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 505 of the MEGF10 protein (p.Gly505Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is present in population databases (rs199699950, ExAC 0.03%). This variant has not been reported in the literature in individuals with MEGF10-related conditions. ClinVar contains an entry for this variant (Variation ID: 582817). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). 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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