ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.7003C>T (p.Arg2335Trp) (rs755149839)

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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 RCV000601410 SCV000711792 uncertain significance not specified 2016-04-12 criteria provided, single submitter clinical testing The p.Arg2335Trp variant in OTOG has not been previously reported in individuals with hearing loss, but has been identified in 2/7658 of South Asian chromosomes by the Exome Aggregation Consortium (ExAC,; dbSN P rs755149839). Although this variant has been seen in the general population, i ts frequency is not high enough to rule out a pathogenic role. Computational pre diction tools and conservation analyses do not provide strong support for or aga inst an impact to the protein. In summary, the clinical significance of the p.Ar g2335Trp variant is uncertain.
Division of Human Genetics,Children's Hospital of Philadelphia RCV000185566 SCV000238457 uncertain significance Deafness, autosomal recessive 18b 2015-02-03 no assertion criteria provided research This variant (NM_001277269.1:c.7003C>T;p.R2335W) is considered a variant of uncertain significance, as it has not been reported in the literature; however, it was seen in 2 alleles out of 17,984 alleles in ExAC with no homozygotes. It occurs in a highly conserved amino acid position and does not occur in a functional domain.

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