ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.301C>T (p.Gln101Ter)

dbSNP: rs1562818685
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760660 SCV000890552 pathogenic not provided 2018-08-13 criteria provided, single submitter clinical testing The Q101X nonsense variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is not observed in large population cohorts (Lek et al., 2016). The variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.

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