ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.1690G>A (p.Val564Ile)

dbSNP: rs1057519797
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001775788 SCV002012660 uncertain significance not provided 2020-02-14 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously reported as a pathogenic or benign germline variant to our knowledge; This variant is associated with the following publications: (PMID: 26097890, 25349422, 25169980, 27109926, 28034880, 28427515, 28978721, 29540482)
Database of Curated Mutations (DoCM) RCV000423825 SCV000505183 likely pathogenic Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation 2014-12-26 no assertion criteria provided literature only

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