ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.63dup (p.Ile22fs)

dbSNP: rs1568663209
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268593 SCV001447626 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Invitae RCV001880168 SCV002130941 pathogenic Developmental and epileptic encephalopathy, 12 2021-09-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 987276). This premature translational stop signal has been observed in individual(s) with microcephaly with early-onset seizures (PMID: 31041400). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile22Hisfs*37) in the PNKP gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PNKP are known to be pathogenic (PMID: 20118933, 25728773).

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