ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.1298+1_1298+10del

gnomAD frequency: 0.00001  dbSNP: rs1568658916
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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 RCV001214794 SCV001386498 likely pathogenic Developmental and epileptic encephalopathy, 12 2019-05-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with PNKP-related conditions. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor 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.

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