Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000188784 | SCV000242408 | pathogenic | not provided | 2014-10-06 | criteria provided, single submitter | clinical testing | c.215_216delCA: p.Thr72ArgfsX61 (T72RfsX61) in exon 2 of the PRRT2 gene (NM_145239.2) The normal sequence with the bases that are deleted in braces is: ACCA{CA}GAGAThe variant is found in EPILEPSY panel(s). The c.215_216delCA mutation in the PRRT2 gene causes a frameshift starting with codon Threonine 72, changes this amino acid to an Arginine residue and creates a premature Stop codon at position 61 of the new reading frame, denoted p.Thr72ArgfsX61. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been previously reported to our knowledge, other frameshift mutations in the PRRT2 gene have been reported in association with PRRT2-related disorders. The variant is found in EPILEPSY panel(s). |