Submissions for variant NM_000141.5(FGFR2):c.943G>T (p.Ala315Ser)

dbSNP: rs121918504

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn	RCV000856813	SCV000999381	pathogenic	Crouzon syndrome		criteria provided, single submitter	clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	RCV001280733	SCV001468050	pathogenic	not provided	2020-09-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001851847	SCV002232599	pathogenic	FGFR2-related craniosynostosis	2025-01-07	criteria provided, single submitter	clinical testing	This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 315 of the FGFR2 protein (p.Ala315Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with FGFR2-related conditions (PMID: 10951518, 12357470, 24127277, 28611549). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 13289). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt FGFR2 protein function with a negative predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics	RCV002496355	SCV002810912	pathogenic	Acrocephalosyndactyly type I; Beare-Stevenson cutis gyrata syndrome; Jackson-Weiss syndrome; Levy-Hollister syndrome; Pfeiffer syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Crouzon syndrome; Saethre-Chotzen syndrome; Familial scaphocephaly syndrome, McGillivray type; Bent bone dysplasia syndrome 1; Gastric cancer	2022-01-18	criteria provided, single submitter	clinical testing
OMIM	RCV000014212	SCV000034460	pathogenic	Craniosynostosis, nonsyndromic unicoronal	2000-08-01	no assertion criteria provided	literature only
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001280733	SCV001955857	pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001280733	SCV001964170	pathogenic	not provided		no assertion criteria provided	clinical testing