Submissions for variant NM_194248.3(OTOF):c.5331C>T (p.Asp1777=)

gnomAD frequency: 0.00016  dbSNP: rs141082575

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000246332	SCV000316868	likely benign	not specified		criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000246332	SCV000711170	likely benign	not specified	2016-07-21	criteria provided, single submitter	clinical testing	p.Asp1777Asp in exon 43 of OTOF: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.1% (17/11578) of Latino chromosomes and 22/66722 European chromosomes by the Exome Aggregation Co nsortium (ExAC, http://exac.broadinstitute.org; dbSNP rs141082575).
Illumina Laboratory Services, Illumina	RCV001141526	SCV001301878	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	RCV002058468	SCV002360254	benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002058468	SCV004138746	likely benign	not provided	2022-06-01	criteria provided, single submitter	clinical testing	OTOF: BP4, BP7