ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.1299-2A>G

gnomAD frequency: 0.00001  dbSNP: rs2122319491
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001389015 SCV001590219 pathogenic Developmental and epileptic encephalopathy, 12 2020-05-04 criteria provided, single submitter clinical testing Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in PNKP are known to be pathogenic (PMID: 20118933, 25728773). For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with PNKP-related conditions (PMID: 29243230). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 29243230). This sequence change affects an acceptor splice site in intron 14 of the PNKP gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency).

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