ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.976G>A (p.Glu326Lys) (rs267606956)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188441 SCV000242055 pathogenic not provided 2015-04-02 criteria provided, single submitter clinical testing This variant is a published mutation that has been seen in a patient with microcephaly with early-onset, intractable seizures and developmental delay (MCSZ) (Shen et al., 2010). The E326K mutation results in a PNKP protein that is less stable than the wild-type enzyme at physiological temperature and results in greatly reduced cellular DNA 3'-phosphatase activity (Reynolds et al., 2012). The variant is found in PNKP panel(s).
OMIM RCV000005119 SCV000025296 pathogenic Early infantile epileptic encephalopathy 10 2010-03-01 no assertion criteria provided literature only

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