ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.1025G>C (p.Cys342Ser) (rs121918487)

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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 RCV000415499 SCV000328395 pathogenic Jackson-Weiss syndrome 2016-09-17 criteria provided, single submitter clinical testing
Invitae RCV000560038 SCV000659604 pathogenic FGFR2 related craniosynostosis 2018-09-14 criteria provided, single submitter clinical testing This sequence change replaces cysteine with serine at codon 342 of the FGFR2 protein (p.Cys342Ser). The cysteine residue is highly conserved and there is a moderate physicochemical difference between cysteine and serine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several individuals affected with craniosynostosis syndromes including Pfeiffer or Crouzen syndromes (PMID: 8644708, 12884434, 9586546, 24127277, 12884424,26362256, 25271085). ClinVar contains an entry for this variant (Variation ID: 374820). Multiple different missense substitutions at this codon (p.Cys342Arg, p.Cys342Tyr, p.Cys342Trp) have been determined to be pathogenic (PMID: 24127277). This suggests that the cysteine residue is critical for FGFR2 protein function and that other missense substitutions at this position may also be pathogenic. For these reasons, this variant has been classified as Pathogenic.
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn RCV000856727 SCV000999272 pathogenic Crouzon syndrome criteria provided, single submitter clinical testing

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