ClinVar Miner

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

dbSNP: rs730882067
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188767 SCV000242391 pathogenic not provided 2022-06-23 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30125676, 27173777, 24465263, 25667815, 23363396, 25502464, 22744660, 22243967, 29215089)
Invitae RCV002228054 SCV000766676 pathogenic Episodic kinesigenic dyskinesia 2023-11-10 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. Loss-of-function variants in PRRT2 are known to be pathogenic (PMID: 22623405, 22744660). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with paroxysmal kinesigenic dyskinesia and benign familial infantile epilepsy (PMID: 22243967, 22744660, 24465263, 27173777). It has also been observed to segregate with disease in related individuals. This variant is also known as c.629_630insC. ClinVar contains an entry for this variant (Variation ID: 31171). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV002247391 SCV002518916 pathogenic Episodic kinesigenic dyskinesia 1 2022-05-04 criteria provided, single submitter clinical testing
OMIM RCV000024169 SCV000045460 pathogenic Infantile convulsions and choreoathetosis 2012-01-13 no assertion criteria provided literature only

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