Submissions for variant NM_007254.4(PNKP):c.1497G>A (p.Leu499=)

gnomAD frequency: 0.00232  dbSNP: rs142199280

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000212875	SCV000113438	likely benign	not specified	2015-09-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000212875	SCV000171070	benign	not specified	2013-02-20	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	RCV000212875	SCV000194727	likely benign	not specified	2019-12-13	criteria provided, single submitter	clinical testing
Invitae	RCV001082419	SCV000289722	benign	Developmental and epileptic encephalopathy, 12	2024-01-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311642	SCV000847248	likely benign	Inborn genetic diseases	2018-12-01	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.
Athena Diagnostics	RCV000230239	SCV001145117	likely benign	not provided	2019-07-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000230239	SCV004140470	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	PNKP: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV004542791	SCV004774718	likely benign	PNKP-related disorder	2019-12-16	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).