ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.4806G>T (p.Arg1602Ser) (rs147052893)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000606156 SCV000711522 uncertain significance not specified 2017-01-28 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Arg1602Ser va riant in OTOG has not been previously reported in individuals with hearing loss, but it has been identified in 16/17152 of African chromosomes by the Genome Agg regation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs147052893). Although this variant has been seen in the general population, its frequency i s not high enough to rule out a pathogenic role. Computational prediction tools and conservation analyses suggest that this variant may not impact the protein. Of note, the arginine (Arg) at position 1602 is not conserved through species, w ith 1 mammal (shrew) having a serine (Ser) at this position. However, this infor mation is not sufficient enough to rule out pathogenicity. In summary, while the clinical significance of the p.Arg1602Ser variant is uncertain, its presence in other species suggests that it is more likely to be benign.

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