ClinVar Miner

Submissions for variant NM_023110.2(FGFR1):c.1825C>T (p.Arg609Ter) (rs121909639)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478244 SCV000567333 pathogenic not provided 2015-09-08 criteria provided, single submitter clinical testing The R609X nonsense variant in the FGFR1 gene has been reported previously inassociation with Kallmann syndrome (Riley et al., 2007; Marcos et al., 2014). This variant is predicted to cause loss of normal protein function either through protein truncation ornonsense-mediated mRNA decay. Therefore, we consider the R609X variant to be pathogenic.
Genetic Services Laboratory, University of Chicago RCV000500417 SCV000594769 pathogenic Kallmann syndrome 2 2017-04-28 criteria provided, single submitter clinical testing
OMIM RCV000030934 SCV000037966 risk factor Hypogonadotropic hypogonadism 2 with anosmia 2007-03-13 no assertion criteria provided literature only

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