ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.6215G>T (p.Arg2072Leu) (rs188527711)

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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 RCV000217027 SCV000272257 uncertain significance not specified 2017-12-07 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Arg2072Leu va riant in OTOG has now been identified by our laboratory in 2 Caucasian individua l with hearing loss; however, one of these individuals carried variants in a dif ferent gene that were sufficient to explain their hearing loss. This variant has also been identified in 0.1% (73/66920) of European chromosomes, including 1 ho mozygous individual, by the Genome Aggregation Database (gnomAD, http://gnomad.b roadinstitute.org; rs188527711). Although this variant has been seen in the gene ral population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation analysis do not provide strong s upport for or against an impact to the protein. In summary, while the clinical s ignificance of the p.Arg2072Leu variant is uncertain, these data suggest that it is more likely to be benign. ACMG/AMP criteria applied: BP5.

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