Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003427783 | SCV004108110 | likely pathogenic | EXT1-related disorder | 2022-12-22 | criteria provided, single submitter | clinical testing | The EXT1 c.1054C>T variant is predicted to result in premature protein termination (p.Gln352*). This variant was reported in an individual with multiple osteochondromas (Table S1 - Jennes et al. 2009. PubMed ID: 19810120). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in EXT1 are expected to be pathogenic. This variant is interpreted as likely pathogenic. |