Submissions for variant NM_007254.4(PNKP):c.1433T>G (p.Val478Gly)

gnomAD frequency: 0.00181  dbSNP: rs3739206

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000147349	SCV000171067	benign	not specified	2013-05-28	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.
Genetic Services Laboratory, University of Chicago	RCV000147349	SCV000194724	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000147349	SCV000226495	benign	not specified	2015-05-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000314798	SCV000414336	likely benign	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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae	RCV000458308	SCV000560519	benign	Developmental and epileptic encephalopathy, 12	2024-01-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312588	SCV000847214	benign	Inborn genetic diseases	2017-02-01	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.