ClinVar Miner

Submissions for variant NM_023110.2(FGFR1):c.1864C>T (p.Arg622Ter) (rs121909628)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Chan Lab,Boston Children's Hospital RCV000156953 SCV000206674 likely pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia 2014-11-01 criteria provided, single submitter case-control
Chan Lab,Boston Children's Hospital RCV000156954 SCV000206675 likely pathogenic Delayed puberty 2014-11-01 criteria provided, single submitter case-control
GeneDx RCV000760399 SCV000890272 pathogenic not provided 2018-11-13 criteria provided, single submitter clinical testing The R622X nonsense variant has been reported previously in association with FGFR1-related disorders (Dodé et al., 2003; Pitteloud et al., 2005). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed in large population cohorts (Lek et al., 2016). We consider this variant to be pathogenic.
OMIM RCV000030926 SCV000037950 risk factor Kallmann syndrome 2 2007-03-01 no assertion criteria provided literature only

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