ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.629dup (p.Ala211fs) (rs730882067)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188767 SCV000242391 pathogenic not provided 2018-02-20 criteria provided, single submitter clinical testing The c.629dupC pathogenic variant in the PRRT2 gene has been reported previously multiple times in association with PRRT2-related disorders (Heron et al., 2012; Meneret et al., 2012; Younet al., 2014). The duplication causes a frameshift starting with codon Alanine 211, changes this amino acid to a Serine residue and creates a premature Stop codon at position 14 of the newreading frame, denoted p.Ala211SerfsX14. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
Invitae RCV000644950 SCV000766676 pathogenic Episodic kinesigenic dyskinesia 1 2017-12-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala211Serfs*14) in the PRRT2 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been reported to segregate with benign familial infantile epilepsy in families (PMID: 22243967, 27173777) and has been reported in individuals affected with paroxysmal kinesigenic dyskinesia (PMID: 24465263, 22744660). This variant is also known as c.629_630insC in the literature. ClinVar contains an entry for this variant (Variation ID: 31171). Loss-of-function variants in PRRT2 are known to be pathogenic (PMID: 22623405, 22744660). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000024169 SCV000045460 pathogenic Infantile convulsions and choreoathetosis 2012-01-13 no assertion criteria provided literature only

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