Submissions for variant NM_020686.6(ABAT):c.267C>T (p.Asp89=)

gnomAD frequency: 0.00057  dbSNP: rs199666932

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000346345	SCV000399246	likely benign	Gamma-aminobutyric acid transaminase deficiency	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000346345	SCV000756673	benign	Gamma-aminobutyric acid transaminase deficiency	2024-01-28	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000732641	SCV000860616	likely benign	not specified	2018-04-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003409503	SCV004141061	likely benign	not provided	2022-08-01	criteria provided, single submitter	clinical testing	ABAT: BP4, BP7