Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000598667 | SCV000709812 | pathogenic | not provided | 2017-11-10 | criteria provided, single submitter | clinical testing | The c.2039dupG variant has been reported previously as an apparently de novo variant in association with Alagille syndrome; the variant was reported as c.2452-2453insG using alternative nomenclature (Crosnier et al., 1999). The duplication causes a frameshift starting with codon Threonine 681, changes this amino acid to a Histidine residue and creates a premature Stop codon at position 8 of the new reading frame, denoted p.Thr681HisfsX8. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed in large population cohorts (Lek et al., 2016). In summary, we consider this variant to be pathogenic. |