Submissions for variant NM_002860.4(ALDH18A1):c.551C>T (p.Ala184Val)

gnomAD frequency: 0.00001  dbSNP: rs201428777

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003766998	SCV000638211	likely benign	Cutis laxa, autosomal dominant 3; Autosomal dominant spastic paraplegia type 9; de Barsy syndrome	2023-09-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001848936	SCV002104506	uncertain significance	Hereditary spastic paraplegia	2017-10-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002526112	SCV003596560	uncertain significance	Inborn genetic diseases	2022-02-25	criteria provided, single submitter	clinical testing	Unlikely to be causative of P5CS deficiency (AD) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen	RCV003424107	SCV004127147	uncertain significance	not provided	2023-08-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV003424107	SCV005190948	uncertain significance	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV003424107	SCV005412184	uncertain significance	not provided	2023-07-26	criteria provided, single submitter	clinical testing	BP4