Submissions for variant NM_144672.4(OTOA):c.2120C>T (p.Ala707Val)

gnomAD frequency: 0.00038  dbSNP: rs145160241

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155250	SCV000204936	benign	not specified	2016-02-09	criteria provided, single submitter	clinical testing	p.Ala707Val in exon 19 of OTOA: This variant is not expected to have clinical si gnificance because it has been identified in 0.4% (66/16512) of South Asian chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs145160241). Additonally, this variant is not conserved across species , including mammals. Of note, gibbon has a valine at this position despite high nearby amino acid conservation.
GeneDx	RCV001568527	SCV001792413	likely benign	not provided	2021-07-02	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30303587)
Invitae	RCV001568527	SCV002215548	likely benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001568527	SCV002822292	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	OTOA: BP4
University of Washington Center for Mendelian Genomics, University of Washington	RCV001291113	SCV001479479	likely pathogenic	Hearing loss, autosomal recessive		no assertion criteria provided	research