ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.2421A>C (p.Ter807Cys)

dbSNP: rs121913103
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002298459 SCV002588127 pathogenic not provided 2022-10-25 criteria provided, single submitter clinical testing Variant results in substitution of the termination codon, leading to protein extension by 101 amino acids; Several different variants resulting in similar protein extensions have been reported in the Human Gene Mutation Database associated with thanatophoric dysplasia (HGMD), and have apparently similar functional consequences on protein stability and/or processing(Bonaventure et al., 2007; Gibbs et al., 2007); Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 10425034, 25728633, 17509076, 17320202)
GeneReviews RCV000055765 SCV000086714 not provided Thanatophoric dysplasia type 1 no assertion provided literature only
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV000055765 SCV001338811 pathogenic Thanatophoric dysplasia type 1 2019-05-08 no assertion criteria provided clinical testing

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