ClinVar Miner

Submissions for variant NM_000141.4(FGFR2):c.1150G>A (p.Gly384Arg) (rs1554927408)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000762798 SCV000893148 pathogenic Acrocephalosyndactyly type I; Cutis Gyrata syndrome of Beare and Stevenson; Jackson-Weiss syndrome; Levy-Hollister syndrome; Pfeiffer syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Crouzon syndrome; Saethre-Chotzen syndrome; Scaphocephaly, maxillary retrusion, and mental retardation; Neoplasm of stomach; Bent bone dysplasia syndrome 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000525216 SCV000659610 pathogenic FGFR2 related craniosynostosis 2017-04-07 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 384 of the FGFR2 protein (p.Gly384Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several individuals affected with craniosynostosis (PMID: 24127277, 8946174). In one of these individuals, this variant was reported to be de novo (PMID: 8946174). 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: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this is a rare missense variant that has been observed to be de novo in one affected individual and present in several other affected individuals. For these reasons, this variant has been classified as Pathogenic.

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