ClinVar Miner

Submissions for variant NM_000141.4(FGFR2):c.1025G>T (p.Cys342Phe) (rs121918487)

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Total submissions: 2
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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 RCV000415490 SCV000328394 pathogenic Jackson-Weiss syndrome 2016-09-17 criteria provided, single submitter clinical testing
Invitae RCV000815502 SCV000955960 pathogenic FGFR2 related craniosynostosis 2018-10-10 criteria provided, single submitter clinical testing This sequence change replaces cysteine with phenylalanine at codon 342 of the FGFR2 protein (p.Cys342Phe). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with Crouzon syndrome (PMID: 8644708, 9677057, 7655462, 27481450). ClinVar contains an entry for this variant (Variation ID: 374819). This variant disrupts the p.Cys342 amino acid residue in FGFR2. Other variant(s) that disrupt this residue have been observed in affected individuals (PMID: 8644708, 12884434, 9586546, 24127277, 12884424,26362256, 25271085), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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