ClinVar Miner

Submissions for variant NM_022970.3(FGFR2):c.1087+1313G>A (rs1554928838)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548281 SCV000659606 uncertain significance FGFR2 related craniosynostosis 2017-05-07 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 345 of the FGFR2 protein (p.Gly345Asp). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an FGFR2-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: "Possibly 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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