ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.6064A>G (p.Thr2022Ala)

gnomAD frequency: 0.00001  dbSNP: rs779853780
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530878 SCV000652881 uncertain significance MEGF8-related Carpenter syndrome 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 1955 of the MEGF8 protein (p.Thr1955Ala). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with MEGF8-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: "Benign"; 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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