ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.2426G>A (p.Arg809Gln)

gnomAD frequency: 0.00002  dbSNP: rs771680156
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001752176 SCV001988178 uncertain significance not provided 2018-12-20 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002506762 SCV002815955 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis 2021-07-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001752176 SCV005041997 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing FGFR1: BP4

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