Submissions for variant NM_020944.3(GBA2):c.1196G>C (p.Arg399Pro)

dbSNP: rs142607078

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084099	SCV000290521	likely benign	Spastic paraplegia	2025-01-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000231814	SCV001155643	likely benign	not provided	2025-03-01	criteria provided, single submitter	clinical testing	GBA2: BP4, BS2
Mayo Clinic Laboratories, Mayo Clinic	RCV000231814	SCV001714895	uncertain significance	not provided	2022-06-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000231814	SCV001874859	uncertain significance	not provided	2021-07-30	criteria provided, single submitter	clinical testing	Reported in an individual with sporadic spasticity, however, a second variant was not discussed and segregation studies were not provided (Ngo et al., 2019); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 31692161)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001848007	SCV002104698	likely benign	Hereditary spastic paraplegia	2020-08-11	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000231814	SCV001798359	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000231814	SCV001931174	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000231814	SCV001967336	likely benign	not provided		no assertion criteria provided	clinical testing