ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2147G>A (p.Ser716Asn)

gnomAD frequency: 0.00003  dbSNP: rs147657016
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Total submissions: 3
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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 RCV000223211 SCV000272230 uncertain significance not specified 2015-06-08 criteria provided, single submitter clinical testing The p.Ser716Asn variant in OTOF has not been previously reported in individuals with hearing loss, but it has been identified in 1/9364 African chromosomes and in 1/10724 Latino chromosomes by the Exome Aggregation Consortium (ExAC, http:// exac.broadinstitute.org; dbSNP rs147657016). Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Ser716Asn variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV003765395 SCV004636822 likely benign not provided 2024-02-03 criteria provided, single submitter clinical testing
GeneDx RCV003765395 SCV005334040 uncertain significance not provided 2023-05-03 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

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