Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000409526 | SCV000487200 | likely pathogenic | Wilson disease | 2016-10-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000489522 | SCV000577513 | pathogenic | not provided | 2017-03-27 | criteria provided, single submitter | clinical testing | The c.388_389dupGC variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.388_389dupGC variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.388_389dupGC variant causes a frameshift starting with codon Alanine 131, changes this amino acid to a Glutamine residue and creates a premature Stop codon at position 23 of the new reading frame, denoted p.Ala131GlnfsX23. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In summary, we interpret c.388_389dupGC as a pathogenic variant. |