Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, |
RCV000014213 | SCV000328370 | pathogenic | Pfeiffer syndrome | 2016-09-17 | criteria provided, single submitter | clinical testing | |
Gene |
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, |
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 Gmb |
RCV000408850 | SCV000484911 | pathogenic | Crouzon syndrome | no assertion criteria provided | clinical testing |