ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.1386+1G>A

dbSNP: rs1057520630
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423961 SCV000516681 pathogenic not provided 2015-04-16 criteria provided, single submitter clinical testing The c.1386+1 G>A splice site variant in the PNKP gene destroys the canonical splice donor site in intron 15.It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject tononsense-mediated mRNA decay, or to an abnormal protein product if the message is used for proteintranslation. It was not observed in approximately 6,100 individuals of European and African Americanancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in thesepopulations. Although c.1386+1 G>A has not been previously reported to our knowledge, it is expected to bea pathogenic variant.

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