ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.748C>T (p.Arg250Trp)

gnomAD frequency: 0.00036  dbSNP: rs373680242
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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 RCV000155262 SCV000204948 uncertain significance not specified 2014-07-16 criteria provided, single submitter clinical testing The Arg250Trp variant in OTOF has not been previously reported in individuals wi th hearing loss, but was identified in 0.07% (3/4406) of African American chromo somes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/, dbSNP rs373680242). Computational prediction tools and conservation analyses sug gest that the Arg250Trp variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical si gnificance of the Arg250Trp variant is uncertain.
GeneDx RCV001731485 SCV001983107 uncertain significance not provided 2021-10-15 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
Labcorp Genetics (formerly Invitae), Labcorp RCV001731485 SCV003280313 likely benign not provided 2024-06-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV003343662 SCV004052792 uncertain significance Inborn genetic diseases 2023-08-08 criteria provided, single submitter clinical testing The c.748C>T (p.R250W) alteration is located in exon 8 (coding exon 8) of the OTOF gene. This alteration results from a C to T substitution at nucleotide position 748, causing the arginine (R) at amino acid position 250 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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