ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.170C>G (p.Ser57Ter)

dbSNP: rs111033200
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000036457 SCV000060112 likely pathogenic Rare genetic deafness 2008-03-01 criteria provided, single submitter clinical testing
Counsyl RCV000410723 SCV000485564 likely pathogenic Pendred syndrome 2016-01-08 criteria provided, single submitter clinical testing
GeneDx RCV003324721 SCV004030863 pathogenic not provided 2023-02-22 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28964290)

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