ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1253G>A (p.Gly418Glu) (rs727505087)

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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 RCV000156527 SCV000206246 uncertain significance not specified 2014-05-23 criteria provided, single submitter clinical testing The Gly418Glu variant in SLC26A4 has not been previously reported in individuals with hearing loss and was absent from large population studies. Computational p rediction tools and conservation analyses suggest this variant may impact the pr otein, though this information is not predictive enough to determine pathogenici ty. In summary, the clinical significance of the Gly418Glu variant is uncertain.

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