ClinVar Miner

Submissions for variant NM_022970.3(FGFR2):c.1087+1262A>G (rs121918493)

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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 RCV000014189 SCV000328384 pathogenic Crouzon syndrome 2016-09-17 criteria provided, single submitter clinical testing
Invitae RCV000798719 SCV000938349 pathogenic FGFR2 related craniosynostosis 2018-07-12 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 328 of the FGFR2 protein (p.Tyr328Cys). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with Crouzon syndrome in a family (PMID: 7874170) and has been observed in other individuals affected with Crouzon syndrome (PMID: 27028366, 27481450). This variant is also known as c.938G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 13270). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000014189 SCV000034437 pathogenic Crouzon syndrome 1994-11-01 no assertion criteria provided literature only

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