ClinVar Miner

Submissions for variant NM_001256545.2(MEGF10):c.2050A>T (p.Ile684Phe)

gnomAD frequency: 0.00009  dbSNP: rs772306149
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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 RCV000686729 SCV000814258 uncertain significance MEGF10-related myopathy 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with phenylalanine at codon 684 of the MEGF10 protein (p.Ile684Phe). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and phenylalanine. This variant is present in population databases (rs772306149, ExAC 0.005%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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