ClinVar Miner

Submissions for variant NM_033163.5(FGF8):c.379C>T (p.Arg127Ter)

dbSNP: rs137852663
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001007971 SCV001167701 pathogenic not provided 2019-02-26 criteria provided, single submitter clinical testing The R127X variant in the FGF8 gene has been reported previously to segregate in a family with multiple individuals with variable features of Kallman syndrome or normosmic isolated hypogonadotropic hypogonadism (Trarbach et al., 2010). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R127X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R127X as a pathogenic variant.
OMIM RCV000735418 SCV000863530 pathogenic Hypogonadotropic hypogonadism 6 with or without anosmia 2018-12-18 no assertion criteria provided literature only

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