Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Research and Counseling Department, |
RCV003883246 | SCV004697512 | likely benign | Exostoses, multiple, type 1 | 2024-02-27 | criteria provided, single submitter | clinical testing | The missense variant NM_000127.3:c.844G>A(p.Ala282Thr) in the EXT1 gene was identified in the heterozygous state in the proband, who presented with multiple osteochondromas, alongside a frameshift variant NM_000127.3:c.347del(p.Val116AlafsTer20) in trans position. The frameshift variant was inherited from affected mother. The p.Ala282Thr variant was not observed in population databases and did not segregate with the disease, as it was inherited from the healthy father. Based on segregation study result we classified it as likely benign variant (PM2, BS4, BP2) |