Submissions for variant NM_015488.5(PNKD):c.265G>A (p.Gly89Arg)

gnomAD frequency: 0.00139  dbSNP: rs147259983

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000296995	SCV000427366	benign	Paroxysmal nonkinesigenic dyskinesia 1	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV001081326	SCV000645445	likely benign	Paroxysmal nonkinesigenic dyskinesia	2024-01-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000676679	SCV000729494	benign	not provided	2020-03-10	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24215330, 28894297)
CeGaT Center for Human Genetics Tuebingen	RCV000676679	SCV002821027	benign	not provided	2022-10-01	criteria provided, single submitter	clinical testing	PNKD: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003940360	SCV004748337	likely benign	PNKD-related condition	2022-01-31	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).
Mayo Clinic Laboratories, Mayo Clinic	RCV000676679	SCV000802475	uncertain significance	not provided	2017-11-08	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000676679	SCV001978586	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000676679	SCV001980019	likely benign	not provided		no assertion criteria provided	clinical testing