ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.1942G>A (p.Ala648Thr)

dbSNP: rs121918508
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000014222 SCV000965758 pathogenic Levy-Hollister syndrome 2014-01-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 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).
GeneDx 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

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