ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.1126+3_1126+4dup

gnomAD frequency: 0.00006  dbSNP: rs750550558
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188469 SCV000242083 likely pathogenic not provided 2013-09-06 criteria provided, single submitter clinical testing c.1126+3_1126+4dupAA: IVS12+3_IVS12+4dupAA in intron 12 of the PNKP gene (NM_007254.2) The c.1126+3_1126+4dupAA variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. Multiple in silico splice prediction algorithms suggest it may damage or even destroy the natural splice donor site in intron 12, possibly leading to abnormal gene splicing. While c.1126+3_1126+4dupAA is a strong candidate for a disease-causing mutation, in the absence of RNA/functional studies the effect of the c.1126+3_1126+4dupAA sequence change on protein function is unknown, and the possibility that it is a benign variant cannot be excluded. The variant is found in INFANT-EPI,EPILEPSY panel(s).

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