ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.1003_1016del (p.Gly335fs)

dbSNP: rs1131691883
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494151 SCV000583052 likely pathogenic not provided 2023-04-25 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; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV003114620 SCV003789192 pathogenic Developmental and epileptic encephalopathy, 12 2023-04-18 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: 430281). This variant has not been reported in the literature in individuals affected with PNKP-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Gly335Serfs*3) 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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