Submissions for variant NM_194248.3(OTOF):c.1723G>A (p.Val575Met)

gnomAD frequency: 0.00781  dbSNP: rs55676840

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen Hearing Loss Variant Curation Expert Panel	RCV002228048	SCV002512123	benign	Nonsyndromic genetic hearing loss	2022-05-13	reviewed by expert panel	curation	The filtering allele frequency (the lower threshold of the 95% CI of 1269/30610) of the c.1723G>A (p.Val575Met) variant in the OTOF gene is 3.95% for South Asian chromosome in gnomAD v2.1.1, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen Hearing Loss Expert Panel for autosomal recessive hearing loss variants (BA1).
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041470	SCV000065165	benign	not specified	2011-01-09	criteria provided, single submitter	clinical testing	Val575Met in exon 15 of OTOF: This variant is not expected to have clinical sign ificance because it has been reported as a neutral change (Varga 2006, Smith 200 8), is present in dbSNP (rs55676840 ? 4 entries), adn has been identified in our laboratory in ~3% of patients.
PreventionGenetics, part of Exact Sciences	RCV000041470	SCV000316846	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000041470	SCV000717967	benign	not specified	2017-10-26	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc	RCV000992466	SCV001144807	benign	not provided	2019-02-13	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000021038	SCV001304207	benign	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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000992466	SCV001471587	benign	not provided	2022-09-12	criteria provided, single submitter	clinical testing
Invitae	RCV000992466	SCV002406565	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneReviews	RCV000021038	SCV000041692	not provided	Autosomal recessive nonsyndromic hearing loss 9		no assertion provided	literature only