ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.3203G>A (p.Arg1068His)

gnomAD frequency: 0.00064  dbSNP: rs180748688
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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 RCV000602848 SCV000710876 uncertain significance not specified 2016-04-08 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Arg1068His va riant in OTOF has not been previously reported in individuals with hearing loss. This variant has been identified in 0.2% (17/10190) of African chromosomes by t he Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs1 80748688). Although this variant has been seen in the general population, its f requency is not high enough to rule out a pathogenic role. Computational predict ion tools and conservation analyses suggest that the p.Arg1068His variant may im pact the protein, though this information is not predictive enough to determine pathogenicity. In summary, while the clinical significance of the p.Arg1068His v ariant is uncertain, the frequency data suggest that it is more likely to be ben ign.
Eurofins Ntd Llc (ga) RCV000730234 SCV000857959 uncertain significance not provided 2017-11-15 criteria provided, single submitter clinical testing
Laboratory of Human Genetics, Institute of Biosciences - University of Sao Paulo RCV001730701 SCV001762973 uncertain significance Bilateral sensorineural hearing impairment criteria provided, single submitter research clinical significance unknown since this variant was found in single heterozygosis and a heterozygous variant in P2RX2 was detected, which is more likely to be related to the phenotype
Labcorp Genetics (formerly Invitae), Labcorp RCV000730234 SCV003496426 benign not provided 2024-01-29 criteria provided, single submitter clinical testing

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