ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.5375G>A (p.Arg1792His) (rs111033349)

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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, Partners HealthCare Personalized Medicine RCV000041571 SCV000065266 likely pathogenic Rare genetic deafness 2016-12-08 criteria provided, single submitter clinical testing The p.Arg1792His variant in OTOF has been previously reported by our laboratory in 3 individuals with hearing loss, including two homozygotes and one with audit ory neuropathy spectrum disorder (ANSD) who was compound heterozygous for a seco nd pathogenic variant in OTOF. This variant has been reported in 1/11258 Europea n chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadins titute.org; dbSNP rs111033349); however, its frequency is low enough to be consi stent with a recessive carrier frequency. Computational prediction tools and con servation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, al though additional studies are required to fully establish its clinical significa nce, this variant is likely pathogenic for autosomal recessive hearing loss.
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000171287 SCV000221484 likely pathogenic not provided no assertion criteria provided research
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000656336 SCV000778299 likely pathogenic Deafness, autosomal recessive 9 2018-02-13 no assertion criteria provided clinical testing
OMIM RCV000656336 SCV000804276 pathogenic Deafness, autosomal recessive 9 2018-08-31 no assertion criteria provided literature only

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