Submissions for variant NM_000019.4(ACAT1):c.471C>A (p.Ser157=)

gnomAD frequency: 0.16806  dbSNP: rs35188041

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000077930	SCV000109759	benign	not specified	2014-09-17	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000366294	SCV000366974	benign	Deficiency of acetyl-CoA acetyltransferase	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	RCV000366294	SCV001722249	benign	Deficiency of acetyl-CoA acetyltransferase	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000366294	SCV001750292	benign	Deficiency of acetyl-CoA acetyltransferase	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001668182	SCV001883195	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000366294	SCV002803616	benign	Deficiency of acetyl-CoA acetyltransferase	2021-07-19	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000366294	SCV002085796	benign	Deficiency of acetyl-CoA acetyltransferase	2019-11-20	no assertion criteria provided	clinical testing