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

dbSNP: rs121913103

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV003398533	SCV004103623	pathogenic	FGFR3-related condition	2023-09-09	criteria provided, single submitter	clinical testing	The FGFR3 c.2421A>T variant is predicted to result in extension of the open reading frame (p.*807Cysext*101). This variant was reported in individuals with thanatophoric dysplasia (Patient 2 in Rousseau et al. 1995. PubMed ID: 7647778; Soo-Kyeong et al. 2018. PubMed ID: 30252581). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. In ClinVar, this variant has been interpreted as pathogenic. In addition, other nucleotide changes at c.2421 (c.241A>C and c.241A>G), resulting in a stop loss and protein extension, have been reported in patients with thanatophoric dysplasia (Passos-Bueno et al. 1999. PubMed ID: 10425034).This variant is interpreted as pathogenic.
OMIM	RCV000017739	SCV000038017	pathogenic	Thanatophoric dysplasia type 1	1996-04-01	no assertion criteria provided	literature only
GeneReviews	RCV000017739	SCV000086716	not provided	Thanatophoric dysplasia type 1		no assertion provided	literature only
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University	RCV003155032	SCV003844095	pathogenic	See cases	2021-11-30	no assertion criteria provided	research