Submissions for variant NM_194248.3(OTOF):c.237G>A (p.Gly79=)

gnomAD frequency: 0.00052  dbSNP: rs117985483

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041493	SCV000065188	likely benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	"Gly79Gly in Exon 04 of OTOF: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 1/7018 European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs117985483)."
GeneDx	RCV001697034	SCV000725212	likely benign	not provided	2021-03-22	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 20224275)
Illumina Laboratory Services, Illumina	RCV001137220	SCV001297139	uncertain significance	Autosomal recessive nonsyndromic hearing loss 9	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.
Invitae	RCV001697034	SCV002454089	benign	not provided	2024-01-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001697034	SCV004140964	likely benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	OTOF: BP4, BP7