Submissions for variant NM_024411.5(PDYN):c.575A>T (p.Glu192Val)

gnomAD frequency: 0.00742  dbSNP: rs45469293

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000279003	SCV000433062	benign	Spinocerebellar ataxia type 23	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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000421771	SCV000511417	likely benign	not provided	2016-12-30	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Invitae	RCV000421771	SCV001095884	benign	not provided	2024-01-16	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV001289118	SCV001476727	benign	not specified	2019-12-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000421771	SCV002513167	likely benign	not provided	2023-07-27	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
CeGaT Center for Human Genetics Tuebingen	RCV000421771	SCV003916276	benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	PDYN: BP4, BS1, BS2