ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.604_607del (p.Ser202fs) (rs1064793851)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485009 SCV000567183 pathogenic not provided 2015-07-17 criteria provided, single submitter clinical testing The c.604_607delTCAC deletion in the PRRT2 gene has been reported previously in association withparoxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) and benign familial infantileseizures (BFIS) (Lee et al., 2012; Zara et al., 2013; Zhang et al., 2014). The deletion causes a frameshiftstarting with codon Serine 202, changes this amino acid to a Histidine residue and creates a prematureStop codon at position 26 of the new reading frame, denoted p.Ser202HisfsX26. This variant is predictedto cause loss of normal protein function either through protein truncation or nonsense-mediated mRNAdecay. Therefore,we consider this variant to be pathogenic.
Invitae RCV000802861 SCV000942707 pathogenic Paroxysmal kinesigenic dyskinesia 2018-08-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser202Hisfs*26) 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 individuals affected with paroxysmal kinesigenic dyskinesia with infantile convulsions and benign familial infantile seizures (BFIS), and has been reported to segregate with disease in affected families (PMID: 22870186, 25403460, 23360469). ClinVar contains an entry for this variant (Variation ID: 419406). 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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