ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.5063C>T (p.Thr1688Met)

gnomAD frequency: 0.00133  dbSNP: rs111033393
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Total submissions: 7
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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 RCV000041560 SCV000065255 likely benign not specified 2012-05-08 criteria provided, single submitter clinical testing Thr1688Met in exon 40 of OTOF: This variant has been identified in three individ uals by our laboratory, none of whom had second OTOF variants and one of whom ha d another cause of hearing loss. In addition, this variant has been identified i n 0.19% (16/8600) of European American chromosomes in a broad population by the NHLBI Exome sequencing project (http://evs.gs.washington.edu/EVS/; dbSNP rs11103 3393). In summary, these data suggest this variant is likely benign.
Eurofins Ntd Llc (ga) RCV000041560 SCV000343185 likely benign not specified 2016-07-26 criteria provided, single submitter clinical testing
Invitae RCV000973013 SCV001120746 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Mendelics RCV000986603 SCV001135636 likely benign Autosomal recessive nonsyndromic hearing loss 9 2019-05-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000973013 SCV001144826 likely benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000986603 SCV001303879 uncertain significance 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV000973013 SCV001874255 uncertain significance not provided 2023-05-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously reported in association with hearing loss to our knowledge; This variant is associated with the following publications: (PMID: 19461658)

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