Submissions for variant NM_007254.4(PNKP):c.672C>T (p.Arg224=)

gnomAD frequency: 0.00046  dbSNP: rs151180981

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000127479	SCV000171053	benign	not specified	2013-04-10	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)	RCV000725343	SCV000336183	uncertain significance	not provided	2017-06-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001083299	SCV000650120	likely benign	Developmental and epileptic encephalopathy, 12	2024-01-29	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000604005	SCV000745397	likely benign	Microcephaly, seizures, and developmental delay	2015-09-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312585	SCV000845959	likely benign	Inborn genetic diseases	2017-01-16	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Genetic Services Laboratory, University of Chicago	RCV000127479	SCV002068535	likely benign	not specified	2019-01-09	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000725343	SCV004140474	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	PNKP: BP4, BP7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000604005	SCV000733907	likely benign	Microcephaly, seizures, and developmental delay		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000725343	SCV001929676	likely benign	not provided		no assertion criteria provided	clinical testing