Submissions for variant NM_000817.3(GAD1):c.1473T>C (p.Tyr491=)

gnomAD frequency: 0.00168  dbSNP: rs146199288

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001836793	SCV000419240	likely benign	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	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	RCV001836793	SCV001099742	benign	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	2024-01-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002057606	SCV002496559	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	GAD1: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003922430	SCV004742078	likely benign	GAD1-related condition	2019-06-20	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).