Submissions for variant NM_194248.3(OTOF):c.51C>T (p.Gly17=)

dbSNP: rs142333075

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041569	SCV000065264	benign	not specified	2012-05-15	criteria provided, single submitter	clinical testing	Gly17Gly in Exon 01 of OTOF: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue, is not located within t he splice consensus sequence, and has been identified in 0.5% (17/3738) of Afric an American chromosomes from a broad population by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS; dbSNP rs142333075).
Eurofins Ntd Llc (ga)	RCV000041569	SCV000332527	benign	not specified	2015-07-08	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000269729	SCV000429661	uncertain significance	Autosomal recessive nonsyndromic hearing loss 9	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	RCV000905752	SCV000726934	benign	not provided	2020-04-08	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 19461658)
Invitae	RCV000905752	SCV001050347	benign	not provided	2024-01-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000905752	SCV001746600	likely benign	not provided	2021-03-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003952462	SCV004769602	benign	OTOF-related condition	2021-01-13	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).