ClinVar Miner

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

dbSNP: 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 2021-10-15 criteria provided, single submitter clinical testing Identified in multiple other patients with thantophoric dysplsasia in the published literature (Xue et al., 2014; Chen et al., 2017); Variant resulting in loss of the termination codon leading to protein extension by 101 amino acids; Not observed at significant frequency in large population cohorts (Lek et al., 2016); Multiple other variants resulting in loss of termination codon and protein extension reported in association with thanatophoric dysplasia (Stenson et al., 2014); Several different variants resulting in similar protein extensions have been reported in the Human Gene Mutation Database associated with thanatophoric dysplasia (Stenson et al., 2014), and have apparently similar functional consequences on protein stability and/or processing (Bonaventure et al., 2007; Gibbs et al., 2007); This variant is associated with the following publications: (PMID: 22045636, 28254233, 9677066, 25614871, 28249712, 19449430, 22414243, 10360402, 19066716, 24295726, 30048571, 7647778, 25728633, 17509076, 17320202, 30692697)
CeGaT Center for Human Genetics 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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