Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
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 | |
Gene |
RCV000017739 | SCV000086716 | not provided | Thanatophoric dysplasia type 1 | no assertion provided | literature only | ||
Institute Of Reproduction And Development, |
RCV003155032 | SCV003844095 | pathogenic | See cases | 2021-11-30 | no assertion criteria provided | research |