ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.5026C>T (p.Arg1676Cys)

gnomAD frequency: 0.00144  dbSNP: rs139767460
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155252 SCV000204938 benign not specified 2014-08-11 criteria provided, single submitter clinical testing Arg1676Cys in exon 40 of OTOF: This variant has been reported in two individuals with hearing loss (Isawa 2013, Wang 2011) but it is not expected to have clinic al significance because it has been seen in 1.6% (9/572) of Asian chromosomes by the 1000 Genomes Project (dbSNP rs139767460), with the frequency in Japanese ch romosomes in particular being 3.4% (6/178).
GeneDx RCV000886780 SCV000730599 benign not provided 2018-06-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21935370, 22575033, 24053799, 28335750, 22906306, 26346818, 30245029, 33095980)
Invitae RCV000886780 SCV001030307 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001143362 SCV001303883 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.
Fulgent Genetics, Fulgent Genetics RCV001143362 SCV002811776 benign Autosomal recessive nonsyndromic hearing loss 9 2022-04-29 criteria provided, single submitter clinical testing

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