Submissions for variant NM_007254.4(PNKP):c.519C>T (p.Asp173=)

gnomAD frequency: 0.00047  dbSNP: rs144284975

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000127475	SCV000171048	benign	not specified	2013-11-27	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga)	RCV000726220	SCV000342977	uncertain significance	not provided	2016-07-07	criteria provided, single submitter	clinical testing
Invitae	RCV001080581	SCV000560512	likely benign	Developmental and epileptic encephalopathy, 12	2024-01-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312583	SCV000845901	likely benign	Inborn genetic diseases	2016-05-02	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Illumina Laboratory Services, Illumina	RCV001129245	SCV001288753	uncertain significance	Microcephaly, seizures, and developmental delay	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen	RCV000726220	SCV004140479	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	PNKP: BP4, BP7