ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.152-8A>G

gnomAD frequency: 0.00001  dbSNP: rs751424212
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001061196 SCV001225929 uncertain significance Developmental and epileptic encephalopathy, 12 2022-07-05 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the PNKP gene. It does not directly change the encoded amino acid sequence of the PNKP protein. This variant is present in population databases (rs751424212, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with PNKP-related conditions. ClinVar contains an entry for this variant (Variation ID: 855853). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
MutSpliceDB: a database of splice sites variants effects on splicing, NIH RCV002463774 SCV002758650 not provided not provided no assertion provided research

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