ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.799T>C (p.Ser267Pro)

dbSNP: rs121918505
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000014213 SCV000328370 pathogenic Pfeiffer syndrome 2016-09-17 criteria provided, single submitter clinical testing
GeneDx RCV000435703 SCV000516004 pathogenic not provided 2023-09-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23348274, 26224133, 23754559, 25759927, 11325814, 10394936, 11781872, 7655462, 9700203, 31318164, 26003532, 29230096, 29104507, 26152202, 28476232, 27002187, 26460964, 29928180, 35253369)
Invitae RCV000690962 SCV000818693 pathogenic FGFR2-related craniosynostosis 2022-12-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects FGFR2 function (PMID: 9700203). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on FGFR2 protein function. ClinVar contains an entry for this variant (Variation ID: 13290). This variant is also known as 811T>C. This missense change has been observed in individual(s) with Crouzon syndrome and/or Pfeiffer syndrome (PMID: 7655462, 10394936, 11781872, 16418739, 23348274, 24127277, 25759927). 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 proline, which is neutral and non-polar, at codon 267 of the FGFR2 protein (p.Ser267Pro).
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV000408850 SCV001149777 pathogenic Crouzon syndrome 2019-06-06 criteria provided, single submitter clinical testing
OMIM RCV000014213 SCV000034461 pathogenic Pfeiffer syndrome 2001-05-01 no assertion criteria provided literature only
OMIM RCV002508123 SCV000034462 pathogenic Gastric cancer 2001-05-01 no assertion criteria provided literature only
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000408850 SCV000484911 pathogenic Crouzon syndrome no assertion criteria provided clinical testing

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