Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Petrovsky National Research Centre of Surgery, |
RCV000721942 | SCV000851985 | pathogenic | Hirschsprung disease, susceptibility to, 1; Sensorineural hearing loss disorder | 2018-11-06 | criteria provided, single submitter | research | The variant c.1280_1281delTG (p.Val427GlyfsTer42) in RET gene was observed in male proband with intestinal obstruction caused by total colonic and ileum aganglionosis and sensorineural hearing loss. The variant c.1280-1281delTG leads to premature stop-codon and was observed de novo. In summary, the c.1280_1281delTG variant meets ACMG criteria for pathogenic variants. |