Submissions for variant NM_000153.4(GALC):c.1717A>G (p.Thr573Ala)

gnomAD frequency: 0.00023  dbSNP: rs200219480

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000271252	SCV000341395	uncertain significance	not provided	2016-04-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000812178	SCV000952482	likely benign	Galactosylceramide beta-galactosidase deficiency	2024-12-22	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000812178	SCV001461637	uncertain significance	Galactosylceramide beta-galactosidase deficiency	2020-04-18	no assertion criteria provided	clinical testing
Serv. Biochemistry and Molecular genetics, Hospital Clinic de Barcelona, Hospital Clínic de Barcelona	RCV000812178	SCV002496167	benign	Galactosylceramide beta-galactosidase deficiency	2022-04-05	no assertion criteria provided	clinical testing	We found the c.1717G>A variant in combination with the c.582+1G>A already reported pathogenic variant, in a foetus. The mother was a carrier for the first one, and the father for the second one. We analysed the galactocerebrosidase enzymatic activity in cultured amniocytes in order to elucidate if the foetus was affected by Krabbe disease. We obtained an activity of 40 nmol/17h/mgprot (control range 56-250) which is a slightly low activity in accordance to a carriership status, not in the range of the affected patients (0-3,5 nmol/17h/mg prot). For that reason we diagnosed the foetus as a non affected by Krabbe disease.