ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.1141T>C (p.Tyr381His)

dbSNP: rs387906678
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003229832 SCV003927384 likely pathogenic not provided 2022-11-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Database of Curated Mutations (DoCM) RCV000427294 SCV000505653 likely pathogenic Endometrium neoplasm 2015-07-14 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000430563 SCV000506389 likely pathogenic Malignant neoplasm of body of uterus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000441347 SCV000506390 likely pathogenic Gastric adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000424046 SCV000506391 likely pathogenic Carcinoma of esophagus 2016-05-31 no assertion criteria provided literature only

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