Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV000014222 | SCV000965758 | pathogenic | Levy-Hollister syndrome | 2014-01-01 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV001291623 | SCV001480188 | pathogenic | not provided | 2021-02-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002513038 | SCV003441602 | pathogenic | FGFR2-related craniosynostosis | 2023-09-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. 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) performed at Invitae indicates that this missense variant is expected to disrupt FGFR2 protein function. ClinVar contains an entry for this variant (Variation ID: 13296). This missense change has been observed in individuals with lacrimoauriculodentodigital syndrome and/or radial anomalies (PMID: 16501574, 31502745). 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 threonine, which is neutral and polar, at codon 648 of the FGFR2 protein (p.Ala648Thr). |
Gene |
RCV001291623 | SCV003761795 | pathogenic | not provided | 2023-01-26 | 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: 23754559, 16501574, 31502745) |
OMIM | RCV000014222 | SCV000034470 | pathogenic | Levy-Hollister syndrome | 2006-04-01 | no assertion criteria provided | literature only |