ClinVar Miner

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

dbSNP: rs121918504
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Total submissions: 7
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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 2022-06-04 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 13289). 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. This variant is not present in population databases (gnomAD no frequency). 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).
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

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