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

dbSNP: rs121913101

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000493112	SCV000583019	pathogenic	not provided	2023-03-15	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; 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 at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 22045636, 28254233, 9677066, 28249712, 19449430, 22414243, 10360402, 19066716, 24295726, 30048571, 25728633, 30692697, 34958143, 34358384, 20301540, 25614871, 7647778, 17509076, 17320202)
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	not provided	Thanatophoric dysplasia type 1		no assertion provided	literature only
Baylor Genetics	RCV000017737	SCV000854613	pathogenic	Thanatophoric dysplasia type 1	2018-11-18	no assertion criteria provided	clinical testing
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University	RCV003155031	SCV003844096	pathogenic	See cases	2022-03-03	no assertion criteria provided	research