ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.2419T>G (p.Ter807Gly) (rs121913101)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493112 SCV000583019 pathogenic not provided 2018-12-06 criteria provided, single submitter clinical testing The c.2419 T>G pathogenic variant in the FGFR3 gene has been previously reported in association with thanatophoric dysplasia 1 (for examples see Rousseau et al., 1995; Chen et al., 2017; Xue et al., 2014). This amino acid substitution results in the replacement of a Stop codon with a Glycine codon at amino acid position 807 and subsequently extends the protein by 101 amino acids, denoted p.X807GextX101. Functional studies show that an equivalent extension due to the Stop codon variant (p.X807RextX101) results in constitutive activation of the receptor (Gibbs et al., 2007; Bonaventure et al., 2007). The c.2419 T>G variant is not observed in large population cohorts (Lek et al., 2016). Other stop codon variants resulting in protein extension (X807L/S/C/W/R) have been reported in the Human Gene Mutation Database in association with thanatophoric dysplasia (Stenson et al., 2014).
CeGaT Praxis fuer Humangenetik Tuebingen RCV000493112 SCV001247236 pathogenic not provided 2018-04-01 criteria provided, single submitter clinical testing
OMIM RCV000017737 SCV000038015 pathogenic Thanatophoric dysplasia type 1 1995-05-01 no assertion criteria provided literature only
GeneReviews RCV000017737 SCV000086712 pathologic Thanatophoric dysplasia type 1 2013-09-12 no assertion criteria provided curation Converted during submission to Pathogenic.
Baylor Genetics RCV000017737 SCV000854613 pathogenic Thanatophoric dysplasia type 1 2018-11-18 no assertion criteria provided clinical testing

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