ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.527C>G (p.Ala176Gly)

gnomAD frequency: 0.00001  dbSNP: rs764246520
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001065367 SCV001230323 uncertain significance MEGF8-related Carpenter syndrome 2019-04-11 criteria provided, single submitter clinical testing 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: "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. This variant has not been reported in the literature in individuals with MEGF8-related conditions. This variant is present in population databases (rs764246520, ExAC 0.05%). This sequence change replaces alanine with glycine at codon 176 of the MEGF8 protein (p.Ala176Gly). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and glycine.

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