ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.865G>A (p.Gly289Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000799828 SCV000939510 uncertain significance Carpenter syndrome 2 2018-12-28 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 289 of the MEGF8 protein (p.Gly289Ser). The glycine residue is weakly conserved and there is a small physicochemical difference between glycine and serine. While this variant is present in population databases (rs753588973), 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 individuals 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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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