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

gnomAD frequency: 0.00010  dbSNP: rs373922574

Total submissions: 6

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)
Labcorp Genetics (formerly Invitae), Labcorp	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.
Breakthrough Genomics, Breakthrough Genomics	RCV000726751	SCV005194761	uncertain significance	not provided		criteria provided, single submitter	not provided