Submissions for variant NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp)

gnomAD frequency: 0.01518  dbSNP: rs80356570

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041500	SCV000065195	benign	not specified	2008-02-19	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000041500	SCV000297404	benign	not specified	2015-11-16	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000041500	SCV000332444	benign	not specified	2015-06-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000992474	SCV000730600	benign	not provided	2018-07-02	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 16371502, 18381613, 16283880, 27884173, 27535533, 19461658, 30245029)
Athena Diagnostics Inc	RCV000992474	SCV001144816	benign	not provided	2018-08-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000021049	SCV001296877	likely 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	RCV000021049	SCV001435277	benign	Autosomal recessive nonsyndromic hearing loss 9		criteria provided, single submitter	research	The heterozygous p.Arg822Trp variant in OTOF has been identified in 2 siblings from 1 family with non-syndromic deafness (PMID: 16283880). However, these affected individuals were also homozygous for a nonsense variant in OTOF and this variant was also present in unaffected individuals (PMID: 16283880). This variant has also been identified in >2% of European (Finnish) chromosomes and 18 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for autosomal recessive non-syndromic deafness.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000992474	SCV001472978	benign	not provided	2023-10-06	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000041500	SCV002051046	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
Invitae	RCV000992474	SCV002403307	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000021049	SCV002808937	benign	Autosomal recessive nonsyndromic hearing loss 9	2022-04-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000992474	SCV003916077	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	OTOF: BS1, BS2
GeneReviews	RCV000021049	SCV000041703	not provided	Autosomal recessive nonsyndromic hearing loss 9		no assertion provided	literature only