ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.215_216del (p.Thr72fs)

dbSNP: rs796052943
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.