Submissions for variant NM_000359.3(TGM1):c.125C>A (p.Ser42Tyr)

gnomAD frequency: 0.00428  dbSNP: rs41295338

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000252909	SCV000303824	likely benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000252909	SCV000514896	likely benign	not specified	2015-05-20	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.
CeGaT Center for Human Genetics Tuebingen	RCV000658687	SCV000780473	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	TGM1: BS2
Invitae	RCV000658687	SCV001110112	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000013298	SCV001267281	uncertain significance	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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
OMIM	RCV000013298	SCV000033545	pathogenic	Autosomal recessive congenital ichthyosis 1	1995-01-27	no assertion criteria provided	literature only
Natera, Inc.	RCV000013298	SCV001460574	benign	Autosomal recessive congenital ichthyosis 1	2020-01-02	no assertion criteria provided	clinical testing
GenomeConnect - Brain Gene Registry	RCV000013298	SCV002030788	not provided	Autosomal recessive congenital ichthyosis 1		no assertion provided	phenotyping only	Variant interpreted as Uncertain significance and reported on 01-16-2019 by Lab or GTR ID 1006. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR ) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator John Constantino MD PhD from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect.