Submissions for variant NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe)

gnomAD frequency: 0.00952  dbSNP: rs34421970

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078701	SCV000110561	benign	not specified	2015-10-27	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001573681	SCV000603839	benign	not provided	2023-09-13	criteria provided, single submitter	clinical testing
GeneDx	RCV001573681	SCV000730469	benign	not provided	2019-03-29	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 16941474, 12644936)
Counsyl	RCV000671886	SCV000796916	likely benign	GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis	2018-01-04	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001150122	SCV001311135	likely benign	GM1 gangliosidosis	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV001150123	SCV001311136	likely benign	Mucopolysaccharidosis, MPS-IV-B	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001511461	SCV001718706	benign	Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001573681	SCV005258416	likely benign	not provided		criteria provided, single submitter	not provided
CeGaT Center for Human Genetics Tuebingen	RCV001573681	SCV005432927	benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	GLB1: BS1, BS2
Blueprint Genetics	RCV000078701	SCV000212125	likely benign	not specified	2015-03-02	no assertion criteria provided	research
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573681	SCV001799918	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000078701	SCV001932707	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004542751	SCV004790985	benign	GLB1-related disorder	2019-04-15	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).