ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.3017C>G (p.Thr1006Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV002470430 SCV002767860 uncertain significance Autosomal recessive nonsyndromic hearing loss 9 2019-08-28 criteria provided, single submitter clinical testing A heterozygous missense variant, NM_14248.2(OTOF):c.3017C>G, has been identified in exon 25 of 47 of the OTOF gene. The variant is predicted to result in a minor amino acid change from threonine to serine at position 1006 of the protein (NP_919224.1(OTOF):p.(Thr1006Ser)). The threonine residue at this position has very high conservation (100 vertebrates, UCSC), and is located within the C2 functional domain. In silico predictions for this variant are consistently pathogenic (Polyphen, SIFT, CADD, Mutation Taster). The variant is present in the gnomAD database at a frequency of 0.0040% (10 heterozygotes, 0 homozygotes). The variant has been previously described as a VUS (Deafnessvariationdatabase). Based on the information available at the time of curation, this variant has been classified as a VARIANT of UNCERTAIN SIGNIFICANCE (VUS).

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