Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003400372 | SCV004103856 | likely pathogenic | EXT1-related disorder | 2023-10-06 | criteria provided, single submitter | clinical testing | The EXT1 c.301G>T variant is predicted to result in premature protein termination (p.Glu101*). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. A similar loss of function variant (c.301del, p.Glu101Serfs∗35) has been reported in individuals with hereditary multiple osteochondromas (Table 1, Fusco et al. 2019. PubMed ID: 30806661). Nonsense variants in EXT1 are expected to be pathogenic. This variant is interpreted as likely pathogenic. |
Center for Genomic Medicine, |
RCV003989842 | SCV004806283 | likely pathogenic | Exostoses, multiple, type 1 | 2024-03-25 | criteria provided, single submitter | clinical testing |