ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.880-34G>A

gnomAD frequency: 0.00001  dbSNP: rs1239450803
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001200407 SCV001371357 pathogenic not provided 2020-06-01 criteria provided, single submitter clinical testing
Invitae RCV001309110 SCV001498595 pathogenic Episodic kinesigenic dyskinesia 2023-11-25 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the PRRT2 gene. It does not directly change the encoded amino acid sequence of the PRRT2 protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individuals with PRRT2-related conditions (PMID: 26935445; Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 932548). Studies have shown that this variant results in activation of a cryptic splice site and introduces a premature termination codon (PMID: 26935445). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic.
3billion RCV002051919 SCV002318590 uncertain significance Infantile convulsions and choreoathetosis 2022-03-22 criteria provided, single submitter clinical testing This variant has been reported as pathogenic (ClinVar ID: VCV000932548, PMID: 26936445). Experimental studies have shown that this variant results in aberrant splicing and premature stop codon (PMID: 26936445). It is not observed in the gnomAD v2.1.1 dataset. Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.
Baylor Genetics RCV003333135 SCV004040970 pathogenic Seizures, benign familial infantile, 2 2023-08-30 criteria provided, single submitter clinical testing

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