Submissions for variant NM_144672.4(OTOA):c.921G>A (p.Ala307=)

gnomAD frequency: 0.00027  dbSNP: rs12051473

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000386798	SCV000345445	benign	not specified	2016-08-26	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000386798	SCV000711264	benign	not specified	2016-06-20	criteria provided, single submitter	clinical testing	p.Ala307Ala in exon 10 of OTOA: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.7% (63/8630) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs12051473).
Athena Diagnostics	RCV000386798	SCV001476586	benign	not specified	2019-10-24	criteria provided, single submitter	clinical testing
GeneDx	RCV001668625	SCV001885746	benign	not provided	2018-10-17	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001668625	SCV002410125	benign	not provided	2024-09-13	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003920168	SCV004737326	likely benign	OTOA-related disorder	2019-03-09	no assertion criteria provided	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).