Submissions for variant NM_001386393.1(PANK2):c.624G>A (p.Ala208=)

gnomAD frequency: 0.00006  dbSNP: rs78631398

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000300446	SCV000433815	likely benign	Pigmentary pallidal degeneration	2018-01-12	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae	RCV000300446	SCV002379310	benign	Pigmentary pallidal degeneration	2024-01-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002510879	SCV002821060	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	PANK2: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003910314	SCV004724944	benign	PANK2-related disorder	2019-08-28	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).