ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp) (rs80356570)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare 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
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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 Clinical Services Laboratory,Illumina RCV000021049 SCV001296877 likely benign Deafness, autosomal recessive 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 Institute Rare Disease Group, Broad Institute RCV000021049 SCV001435277 benign Deafness, autosomal recessive 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 RCV001286413 SCV001472978 benign none provided 2020-01-29 criteria provided, single submitter clinical testing
GeneReviews RCV000021049 SCV000041703 benign Deafness, autosomal recessive 9 2011-04-26 no assertion criteria provided curation Converted during submission to Benign.

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