Submissions for variant NM_005422.4(TECTA):c.4315C>A (p.Leu1439Ile)

gnomAD frequency: 0.00026  dbSNP: rs202199158

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000221693	SCV000269867	benign	not specified	2015-11-05	criteria provided, single submitter	clinical testing	p.Leu1439Ile in exon 13 of TECTA: This variant is not expected to have clinical significance because it has been identified in 0.95% (82/8632) of East Asian chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg;rs202199158).
Eurofins Ntd Llc (ga)	RCV000221693	SCV000342233	likely benign	not specified	2016-06-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001002767	SCV000368179	benign	Autosomal dominant nonsyndromic hearing loss 12	2018-01-13	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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000259932	SCV000368180	uncertain significance	Autosomal recessive nonsyndromic hearing loss 21	2018-01-13	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	RCV001172052	SCV000730640	likely benign	not provided	2020-11-05	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23967202, 30245029, 28946916)
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital	RCV001002767	SCV000992410	likely benign	Autosomal dominant nonsyndromic hearing loss 12		criteria provided, single submitter	case-control
CeGaT Center for Human Genetics Tuebingen	RCV001172052	SCV001334987	benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	TECTA: BS1, BS2
Labcorp Genetics (formerly Invitae), Labcorp	RCV001172052	SCV001721792	benign	not provided	2025-01-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003967578	SCV004778615	likely benign	TECTA-related disorder	2020-10-27	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).