Submissions for variant NM_194248.3(OTOF):c.157G>A (p.Ala53Thr)

gnomAD frequency: 0.00032  dbSNP: rs144915302

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041464	SCV000065159	benign	not specified	2017-07-05	criteria provided, single submitter	clinical testing	p.Ala53Thr in exon 3 of OTOF: This variant is not expected to have clinical sign ificance because it has been identified in 1.5% (290/18866) of East Asian chromo somes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.o rg; dbSNP rs144915302).
Illumina Laboratory Services, Illumina	RCV001139471	SCV001299626	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	RCV001520327	SCV001729397	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001520327	SCV001826110	likely benign	not provided	2020-12-01	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 20504331, 23967202, 30245029, 24053799)
Department of Otolaryngology, Head and Neck Surgery, Beijing Friendship Hospital, Capital Medical University	RCV003984814	SCV004801126	pathogenic	Auditory neuropathy spectrum disorder	2020-06-11	no assertion criteria provided	clinical testing