Submissions for variant NM_000436.4(OXCT1):c.1402C>T (p.Arg468Cys)

gnomAD frequency: 0.00001  dbSNP: rs1327401976

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Baylor Genetics	RCV000984940	SCV001521445	likely pathogenic	Succinyl-CoA acetoacetate transferase deficiency	2020-06-03	criteria provided, single submitter	clinical testing	This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Revvity Omics, Revvity	RCV000984940	SCV002020209	likely pathogenic	Succinyl-CoA acetoacetate transferase deficiency	2021-03-01	criteria provided, single submitter	clinical testing
AiLife Diagnostics, AiLife Diagnostics	RCV002223963	SCV002502915	likely pathogenic	not provided	2022-03-22	criteria provided, single submitter	clinical testing
Institute of Human Genetics, University Hospital Muenster	RCV000984940	SCV002526104	likely pathogenic	Succinyl-CoA acetoacetate transferase deficiency	2022-04-08	criteria provided, single submitter	clinical testing	ACMG categories: PM1,PM2,PP3,PP5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV000984940	SCV004804789	likely pathogenic	Succinyl-CoA acetoacetate transferase deficiency	2024-03-17	criteria provided, single submitter	research
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	RCV000984940	SCV001132854	pathogenic	Succinyl-CoA acetoacetate transferase deficiency	2019-01-29	no assertion criteria provided	clinical testing