ClinVar Miner

Submissions for variant NC_000013.11:g.20189302G>A

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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 RCV000825342 SCV000966637 uncertain significance not specified 2018-05-10 criteria provided, single submitter clinical testing The p.His94Tyr variant in GJB2 has not been previously reported in individuals w ith hearing loss and was absent from large population studies. Computational pre diction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogen icity. Another variant at this amino acid position (c.281A>T; p.His94Leu) has be en identified by our laboratory in 2 siblings and a parent all with sensorineura l hearing loss, and none of whom was found to have a second GJB2 variant/GJB6 de letion. Taken together, this suggests that variants impacting the histidine (His ) residue at amino acid position 94 may result in autosomal dominant hearing los s; however, this data is insufficient to determine the clinical significance of either variant. In summary, the clinical significance of the p.His94Tyr variant is uncertain. ACMG/AMP criteria applied: PM2; PP3.

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