ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.1021A>C (p.Thr341Pro) (rs121918495)

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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 RCV000014194 SCV000328389 pathogenic Pfeiffer syndrome 2016-09-17 criteria provided, single submitter clinical testing
Invitae RCV001037961 SCV001201399 pathogenic FGFR2 related craniosynostosis 2019-04-11 criteria provided, single submitter clinical testing This sequence change replaces threonine with proline at codon 341 of the FGFR2 protein (p.Thr341Pro). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with FGFR2-related conditions (PMID: 7719345, 9586546, 16418739, 27028366). In at least one of these individuals, it was determined to be de novo (PMID: 7719345). ClinVar contains an entry for this variant (Variation ID: 13274). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000014194 SCV000034442 pathogenic Pfeiffer syndrome 1995-02-01 no assertion criteria provided literature only

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