ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.324_325del (p.Ser110fs) (rs886042013)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000378110 SCV000330842 pathogenic not provided 2016-09-23 criteria provided, single submitter clinical testing The c.324_325delAG pathogenic variant in the PRRT2 gene causes a frameshift starting with codon Serine 110, changes this amino acid to a Glutamine residue and creates a premature Stop codon at position 23 of the new reading frame, denoted p.Ser110GlnfsX23. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Furthermore, it was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.
Invitae RCV001045357 SCV001209202 pathogenic Paroxysmal kinesigenic dyskinesia 2019-12-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser110Glnfs*23) in the PRRT2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PRRT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 280888). Loss-of-function variants in PRRT2 are known to be pathogenic (PMID: 22623405, 22744660). For these reasons, this variant has been classified as Pathogenic.

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