ClinVar Miner

Submissions for variant NM_000141.4(FGFR2):c.826T>G (p.Phe276Val) (rs1057519036)

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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 RCV000415486 SCV000328371 pathogenic Crouzon syndrome 2016-09-17 criteria provided, single submitter clinical testing
Invitae RCV000655413 SCV000777343 likely pathogenic FGFR2 related craniosynostosis 2018-08-29 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with valine at codon 276 of the FGFR2 protein (p.Phe276Val). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with craniosynostosis conditions, including Crouzon syndrome and Pfeiffer syndrome (PMID: 9521581, 24127277, 11781872, 10394936, 10633130, 24656465). ClinVar contains an entry for this variant (Variation ID: 374809). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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