ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.5479C>T (p.Arg1827Trp) (rs142748621)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000222004 SCV000272241 uncertain significance not specified 2016-02-02 criteria provided, single submitter clinical testing The p.Arg1827Trp variant in OTOF has not been previously reported in individuals with hearing loss, but has been identified in 3/11578 Latino chromosomes by the Exome Aggregation Consortium (ExAC,; dbSNP rs142 748621). Computational prediction tools and conservation analysis suggest that t his variant may impact the protein, though this information is not predictive en ough to determine pathogenicity. In summary, the clinical significance of the p. Arg1827Trp variant is uncertain.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756454 SCV000884274 uncertain significance not provided 2018-02-15 criteria provided, single submitter clinical testing The OTOF c.5479C>T; p.Arg1827Trp variant (rs142748621), to our knowledge, is not reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.005% (identified on 14 out of 277,174 chromosomes) and is classified as a variant of uncertain significance in ClinVar (ID: 229081). The arginine at position 1827 is moderately conserved, considering 12 species, and computational analyses of the effects of the p.Arg1827Trpvariant on protein structure and function make conflicting predictions (SIFT: tolerated, PolyPhen-2: probably damaging). Based on the available information, the clinical significance of the p.Arg1827Trpvariant cannot be determined with certainty.

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