Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000519467 | SCV000618652 | likely pathogenic | not provided | 2018-02-05 | criteria provided, single submitter | clinical testing | A variant that is likely pathogenic has been identified in the PNKP gene. The c.1215dupT variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1215dupT variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.1215dupT variant causes a frameshift starting with codon Valine 406, changes this amino acid to a Cysteine residue and creates a premature Stop codon at position 5 of the new reading frame, denoted p.Val406CysfsX5. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded. |