Submissions for variant NM_007254.4(PNKP):c.876A>G (p.Gly292=)

gnomAD frequency: 0.00033  dbSNP: rs3739199

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000173827	SCV000171057	benign	not specified	2013-06-28	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	RCV000147372	SCV000194749	uncertain significance	Microcephaly, seizures, and developmental delay	2013-02-08	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000173827	SCV000224982	benign	not specified	2015-02-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000457894	SCV000560516	benign	Developmental and epileptic encephalopathy, 12	2024-01-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002371968	SCV002686243	benign	Inborn genetic diseases	2017-06-14	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.