Submissions for variant NM_013339.4(ALG6):c.391T>C (p.Tyr131His)

gnomAD frequency: 0.02935  dbSNP: rs35383149

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081558	SCV000113489	benign	not specified	2013-02-26	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000081558	SCV000258066	benign	not specified	2015-09-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000081558	SCV000311971	likely benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000081558	SCV000517504	benign	not specified	2016-01-26	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000023375	SCV000649495	benign	ALG6-congenital disorder of glycosylation 1C	2024-02-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000023375	SCV000743998	likely benign	ALG6-congenital disorder of glycosylation 1C	2016-01-08	criteria provided, single submitter	clinical testing
Mendelics	RCV000023375	SCV001135298	likely benign	ALG6-congenital disorder of glycosylation 1C	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000023375	SCV001255681	likely benign	ALG6-congenital disorder of glycosylation 1C	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genome-Nilou Lab	RCV000023375	SCV001712306	benign	ALG6-congenital disorder of glycosylation 1C	2021-05-18	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000081558	SCV002050973	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
OMIM	RCV000023375	SCV000044666	uncertain significance	ALG6-congenital disorder of glycosylation 1C	2011-05-01	no assertion criteria provided	literature only
Genetic Services Laboratory, University of Chicago	RCV000081558	SCV000150236	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000023375	SCV000734048	benign	ALG6-congenital disorder of glycosylation 1C		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000023375	SCV001456167	benign	ALG6-congenital disorder of glycosylation 1C	2020-01-13	no assertion criteria provided	clinical testing