Submissions for variant NM_194248.3(OTOF):c.5091G>A (p.Pro1697=)

gnomAD frequency: 0.00018  dbSNP: rs373568741

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041563	SCV000065258	likely benign	not specified	2016-10-06	criteria provided, single submitter	clinical testing	p.Pro1697Pro in exon 40 of OTOF: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located n ear a splice junction. It has been identified in 0.2% (20/8614) of East Asian c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs373568741).
Illumina Laboratory Services, Illumina	RCV001143358	SCV001303878	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	RCV002054830	SCV002392501	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003904987	SCV004719412	likely benign	OTOF-related disorder	2019-08-07	criteria provided, single submitter	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).