ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1707+6T>C (rs727505230)

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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 RCV000156735 SCV000206456 likely pathogenic Rare genetic deafness 2014-11-05 criteria provided, single submitter clinical testing The c.1707+6T>C variant in SLC26A4 was absent from large population studies, but has been identified by our laboratory in one individual with hearing loss and e nlarged vestibular aqueducts (EVA) who also carried a pathogenic variant on the other copy of SLC26A4. This variant is located in the 5' splice region. Computat ional tools do not suggest an impact to splicing, though this information is not predictive enough to rule out pathogenicity. However, the presence of this vari ant in combination with a reported pathogenic variant and in an individual with hearing loss and EVA, increases the likelihood that the c.1707+6T>C variant is p athogenic. In summary, although additional studies are required to fully establi sh its clinical significance, the c.1707+6T>C variant is likely pathogenic.

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