ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.47C>G (p.Ala16Gly)

dbSNP: rs1050352479
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002040713 SCV002300735 uncertain significance MEGF8-related Carpenter syndrome 2021-03-24 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with MEGF8-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with glycine at codon 16 of the MEGF8 protein (p.Ala16Gly). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and glycine. 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. 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: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0").

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