Submissions for variant NM_000359.3(TGM1):c.167C>T (p.Ala56Val)

gnomAD frequency: 0.00024  dbSNP: rs147479810

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000907290	SCV001051986	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001109899	SCV001267280	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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx	RCV000907290	SCV001786257	uncertain significance	not provided	2019-08-07	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc.	RCV001109899	SCV001460573	likely benign	Autosomal recessive congenital ichthyosis 1	2020-06-22	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003912961	SCV004730998	likely benign	TGM1-related disorder	2019-05-28	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).