ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.781G>A (p.Gly261Arg)

dbSNP: rs2134317947
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001766228 SCV002008056 uncertain significance not provided 2024-03-07 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; This variant is associated with the following publications: (PMID: 11781872, 29230096)
Fulgent Genetics, Fulgent Genetics RCV002488617 SCV002782641 uncertain significance Acrocephalosyndactyly type I; Beare-Stevenson cutis gyrata syndrome; Jackson-Weiss syndrome; Levy-Hollister syndrome; Pfeiffer syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Crouzon syndrome; Saethre-Chotzen syndrome; Familial scaphocephaly syndrome, McGillivray type; Bent bone dysplasia syndrome 1; Gastric cancer 2022-05-12 criteria provided, single submitter clinical testing

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