ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.994C>T (p.Pro332Ser)

gnomAD frequency: 0.00010  dbSNP: rs373922574
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147375 SCV000194752 uncertain significance Microcephaly, seizures, and developmental delay 2013-02-15 criteria provided, single submitter clinical testing
GeneDx RCV000726751 SCV000242093 uncertain significance not provided 2022-08-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 22508754)
Invitae RCV000227478 SCV000289727 likely benign Developmental and epileptic encephalopathy, 12 2023-12-28 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726751 SCV000702778 uncertain significance not provided 2016-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381454 SCV002690103 uncertain significance Inborn genetic diseases 2018-11-28 criteria provided, single submitter clinical testing The p.P332S variant (also known as c.994C>T), located in coding exon 10 of the PNKP gene, results from a C to T substitution at nucleotide position 994. The proline at codon 332 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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