Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000254961 | SCV000322126 | pathogenic | not provided | 2016-02-22 | criteria provided, single submitter | clinical testing | The c.538_539delAG pathogenic variant in the EXT1 gene has been reported previously in association with hereditary multiple exostoses (Jennes et al., 2008; Reijnders et al., 2010). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.538_539delAG variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. |
Invitae | RCV000538727 | SCV000626131 | pathogenic | Multiple congenital exostosis | 2023-01-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 265339). This premature translational stop signal has been observed in individual(s) with multiple osteochondromas (PMID: 18165274, 20813973, 22116208). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu181Profs*7) in the EXT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EXT1 are known to be pathogenic (PMID: 10679937, 11391482, 19810120). |
Fulgent Genetics, |
RCV002494802 | SCV002804383 | pathogenic | Chondrosarcoma; Exostoses, multiple, type 1 | 2021-09-28 | criteria provided, single submitter | clinical testing |