Submissions for variant NM_020944.3(GBA2):c.134G>C (p.Cys45Ser)

dbSNP: rs776346547

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000203172	SCV000258166	uncertain significance	not specified	2015-05-12	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001331162	SCV001523131	uncertain significance	Hereditary spastic paraplegia 46	2020-05-05	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics	RCV002517355	SCV003602921	uncertain significance	Inborn genetic diseases	2021-10-22	criteria provided, single submitter	clinical testing	The c.134G>C (p.C45S) alteration is located in exon 1 (coding exon 1) of the GBA2 gene. This alteration results from a G to C substitution at nucleotide position 134, causing the cysteine (C) at amino acid position 45 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen	RCV004584631	SCV005074583	uncertain significance	not provided	2024-06-01	criteria provided, single submitter	clinical testing	GBA2: PM2, BP4
Breakthrough Genomics, Breakthrough Genomics	RCV004584631	SCV005195405	uncertain significance	not provided		criteria provided, single submitter	not provided