ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.1115C>G (p.Ser372Cys)

dbSNP: rs121913477
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001382546 SCV001581381 pathogenic FGFR2-related craniosynostosis 2022-07-19 criteria provided, single submitter clinical testing 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: "Possibly Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 13278). This missense change has been observed in individual(s) with Beare-Stevenson cutis gyrata syndrome (PMID: 8696350, 18247426, 24127277, 25706251). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 372 of the FGFR2 protein (p.Ser372Cys).
OMIM RCV000014200 SCV000034448 pathogenic Beare-Stevenson cutis gyrata syndrome 2008-03-01 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000424237 SCV000504808 likely pathogenic Endometrium neoplasm 2015-07-14 no assertion criteria provided literature only

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