ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1415G>A (p.Trp472Ter) (rs1554359693)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668629 SCV000793263 likely pathogenic Pendred syndrome 2017-08-08 criteria provided, single submitter clinical testing
GeneDx RCV000760431 SCV000890314 pathogenic not provided 2018-11-27 criteria provided, single submitter clinical testing The W472X nonsense variant has been reported previously in association with hearing loss (Yao et al., 2013). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed in large population cohorts (Lek et al., 2016). We consider this variant to be pathogenic.

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