ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.323_324del (p.Thr108fs) (rs886041327)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000278799 SCV000329741 pathogenic not provided 2015-12-29 criteria provided, single submitter clinical testing The c.323_324delCA pathogenic variant in the PRRT2 gene has been reported previously in association with paroxysmal kinesigenic dyskinesia and benign familial infantile epilepsy (Yang et al., 2014; Seong et al., 2014). The deletion causes a frameshift starting with codon Threonine 108, changes this amino acid to a Serine residue and creates a premature Stop codon at position 25 of the new reading frame, denoted p.Thr108SerfsX25. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000278799 SCV001150886 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000278799 SCV001475994 pathogenic not provided 2019-12-23 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one patient with expected phenotype for this gene, and not found in general population data.
Invitae RCV001386017 SCV001586097 pathogenic Paroxysmal kinesigenic dyskinesia 2020-09-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr108Serfs*25) 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 been observed in individual(s) with benign familial infantile epilepsy (PMID: 29215089). ClinVar contains an entry for this variant (Variation ID: 280022). 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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