ClinVar Miner

Submissions for variant NM_022970.3(FGFR2):c.868T>C (p.Trp290Arg) (rs121918501)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000014205 SCV000328377 pathogenic Crouzon syndrome 2016-09-17 criteria provided, single submitter clinical testing
Invitae RCV000537718 SCV000659622 pathogenic FGFR2 related craniosynostosis 2018-05-21 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with arginine at codon 290 of the FGFR2 protein (p.Trp290Arg). The tryptophan residue is highly conserved and there is a moderate physicochemical difference between tryptophan and arginine. This variant is not present in population databases (rs121918501, ExAC no frequency). This variant has been reported in many individuals affected with Crouzon syndrome (PMID: 7655462, 23431754, 16418739, 24656465, 24127277 ). ClinVar contains an entry for this variant (Variation ID: 13283). Experimental studies have shown that the presence of this missense change in a mouse model leads to phenotypic features that are similar to those seen in humans with Crouzon syndrome (PMID: 20503384). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000014205 SCV000034453 pathogenic Crouzon syndrome 1995-06-01 no assertion criteria provided literature only

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