ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1336C>T (p.Gln446Ter) (rs397516416)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036438 SCV000060093 pathogenic Rare genetic deafness 2011-07-28 criteria provided, single submitter clinical testing The Gln446X variant in SLC26A4 has been reported as a compound heterozygous vari ant in one proband with hearing loss and EVA and was absent in 168 normal hearin g controls (Wang 2007). In addition, this variant leads to a premature stop codo n at position 446, which is predicted to lead to a truncated or absent protein. In summary, this variant meets our criteria to be classified as pathogenic.
Counsyl RCV000169037 SCV000220192 likely pathogenic Pendred syndrome 2014-03-27 criteria provided, single submitter literature only

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