ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.1003G>T (p.Gly335Cys) (rs768567927)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188443 SCV000242057 uncertain significance not provided 2013-07-17 criteria provided, single submitter clinical testing p.Gly335Cys (GGC>TGC): c.1003 G>T in exon 11 of the PNKP gene (NM_007254.2) The Gly335Cys missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The amino acid substitution is non-conservative, as a non-polar Glycine residue is replaced by a polar Cysteine residue, and the gain of a Cysteine may affect disulfide bond formation in the protein. However, it alters a poorly conserved position in the protein, and multiple in silico algorithms predict it may be benign. Therefore, based on the currently available information, it is unclear whether Gly335Cys is a disease-causing mutation or a rare benign variant.The variant is found in EPILEPSY panel(s).
Fulgent Genetics,Fulgent Genetics RCV000765463 SCV000896754 uncertain significance Early infantile epileptic encephalopathy 10; Ataxia-oculomotor apraxia 4 2018-10-31 criteria provided, single submitter clinical testing

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