ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.2689C>T (p.Leu897Phe)

dbSNP: rs777017134
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000690190 SCV000817869 uncertain significance MEGF8-related Carpenter syndrome 2018-04-24 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 830 of the MEGF8 protein (p.Leu830Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is present in population databases (rs777017134, ExAC 0.01%). This variant has not been reported in the literature in individuals with 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: "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.

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