ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg)

dbSNP: rs121913101
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520562 SCV000617523 pathogenic not provided 2017-09-19 criteria provided, single submitter clinical testing The c.2419 T>A 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 an Arginine codon at amino acid position 807 and subsequently extends the protein by 101 amino acids, denoted p.X807RextX101. Functional studies show that this extension results in constitutive activation of the receptor (Gibbs et al., 2007; Bonaventure et al., 2007). The c.2419 T>A variant is not observed in large population cohorts (Lek et al., 2016). Other stop codon variants resulting in protein extension (X807L/S/C/W/G) have been reported in the Human Gene Mutation Database in association with thanatophoric dysplasia (Stenson et al., 2014).
OMIM RCV000017738 SCV000038016 pathogenic Thanatophoric dysplasia type 1 1995-05-01 no assertion criteria provided literature only
GeneReviews RCV000017738 SCV000086710 pathologic Thanatophoric dysplasia type 1 2013-09-12 no assertion criteria provided curation Converted during submission to Pathogenic.

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