Submissions for variant NM_147196.3(TMIE):c.219G>A (p.Thr73=)

gnomAD frequency: 0.00053  dbSNP: rs202208051

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000213588	SCV000270924	likely benign	not specified	2016-03-31	criteria provided, single submitter	clinical testing	p.Thr73Thr in exon 03 of TMIE: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.2% (15/9778) of Afr ican chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadins titute.org; dbSNP rs202208051).
Eurofins Ntd Llc (ga)	RCV000731531	SCV000859362	uncertain significance	not provided	2018-02-01	criteria provided, single submitter	clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	RCV000213588	SCV000864321	likely benign	not specified	2017-07-17	criteria provided, single submitter	clinical testing	BP6, BP7; This alteration was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory), and is a synonymous alteration with no predicted impact on splicing and/or occurring at a non-evolutionarily conserved nucleotide position.
Illumina Laboratory Services, Illumina	RCV001147422	SCV001308246	uncertain significance	Autosomal recessive nonsyndromic hearing loss 6	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV000731531	SCV001874173	likely benign	not provided	2020-08-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000731531	SCV002438780	likely benign	not provided	2024-10-23	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000731531	SCV003916812	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	TMIE: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV004751377	SCV005353409	likely benign	TMIE-related disorder	2024-08-13	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).