Submissions for variant NM_000359.3(TGM1):c.1559A>G (p.Glu520Gly)

gnomAD frequency: 0.00555  dbSNP: rs142404759

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000223976	SCV000281504	likely benign	not provided	2015-12-23	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000714707	SCV000845432	uncertain significance	Autosomal recessive congenital ichthyosis 1	2018-08-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000223976	SCV001107244	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000714707	SCV001271633	likely benign	Autosomal recessive congenital ichthyosis 1	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.
GeneDx	RCV000223976	SCV001861427	likely benign	not provided	2019-01-17	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31642606, 27025581, 11348475, 21228398)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV002265700	SCV002547987	benign	not specified	2022-05-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000223976	SCV004129137	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	TGM1: BP4, BS2
Natera, Inc.	RCV000714707	SCV001456439	benign	Autosomal recessive congenital ichthyosis 1	2020-04-17	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003919911	SCV004736474	likely benign	TGM1-related disorder	2019-07-16	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).