ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.2206C>T (p.Gln736Ter)

dbSNP: rs1057524176
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426133 SCV000534772 pathogenic not provided 2016-12-29 criteria provided, single submitter clinical testing The Q736X pathogenic variant in the SLC26A4 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q736X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret Q736X as a pathogenic variant.

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