ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.173del (p.Pro58fs)

dbSNP: rs796052940
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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).

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