ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.8522C>G (p.Thr2841Ser) (rs914088074)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554737 SCV000652897 uncertain significance Carpenter syndrome 2 2016-09-15 criteria provided, single submitter clinical testing This sequence change replaces threonine with serine at codon 2774 of the MEGF8 protein (p.Thr2774Ser). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and serine. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in an individual with a MEGF8-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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