ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.1910T>C (p.Ile637Thr)

gnomAD frequency: 0.00076  dbSNP: rs111033351
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Total submissions: 4
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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 RCV000041472 SCV000065167 uncertain significance not specified 2017-03-31 criteria provided, single submitter clinical testing The p.Ile637Thr variant in OTOF has been previously identified by our laboratory in 4 individuals hearing loss, 3 of whom also have the p.Asp1406Asn variant of uncertain significance, suggesting that these two variants may occur in cis (on the same allele). One of those individuals was reported to have auditory neuropa thy/dys-synchrony and carried additional OTOF variants that were likely causativ e for the hearing loss. This variant has been identified in 0.2% (24/10294) of A frican chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadi nstitute.org; dbSNP rs111033351). Computational prediction tools and conservatio n analysis suggest that this variant may impact the protein, though this informa tion is not predictive enough to determine pathogenicity. In summary, the clinic al significance of the p.Ile637Thr variant is uncertain.
Fulgent Genetics, Fulgent Genetics RCV000765661 SCV000896995 uncertain significance Autosomal recessive nonsyndromic hearing loss 9 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001762126 SCV002001043 uncertain significance not provided 2022-05-03 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 published as pathogenic or benign to our knowledge
Invitae RCV001762126 SCV002399538 likely benign not provided 2024-01-15 criteria provided, single submitter clinical testing

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