ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro) (rs121918497)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000415509 SCV000328375 pathogenic Pfeiffer syndrome 2016-09-17 criteria provided, single submitter clinical testing
Invitae RCV001217538 SCV001389384 pathogenic FGFR2 related craniosynostosis 2019-07-15 criteria provided, single submitter clinical testing This sequence change replaces glutamine with proline at codon 289 of the FGFR2 protein (p.Gln289Pro). The glutamine residue is moderately conserved and there is a moderate physicochemical difference between glutamine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with FGFR2-related craniosynostosis syndromes, including Crouzon syndrome, and type 1 Pfeiffer syndrome (PMID: 7655462, 16418739, 19066959). In at least one of these individuals the variant was found to be de novo. ClinVar contains an entry for this variant (Variation ID: 13276). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000014196 SCV000034444 pathogenic Crouzon syndrome 1996-03-01 no assertion criteria provided literature only
OMIM RCV000014197 SCV000034445 pathogenic Jackson-Weiss syndrome 1996-03-01 no assertion criteria provided literature only

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