Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000188777 | SCV000242401 | pathogenic | not provided | 2014-02-12 | criteria provided, single submitter | clinical testing | c.173delC: p.Pro58LeufsX32 (P58LfsX32) in the PRRT2 gene (NM_145239.2) The c.173delC mutation in the PRRT2 gene causes a frameshift starting with codon Proline 58, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 32 of the new reading frame, denoted p.Pro58LeufsX32. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This mutation has not been previously reported to our knowledge.The variant is found in PRRT2 panel(s). |