ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.2118C>A (p.Cys706Ter) (rs142656144)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666346 SCV000790622 pathogenic Pendred syndrome 2017-03-30 criteria provided, single submitter clinical testing
Invitae RCV001064709 SCV001229625 pathogenic not provided 2019-12-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys706*) in the SLC26A4 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs142656144, ExAC 0.02%). This variant has been observed in individuals affected with clinical features of SLC26A4-related conditions (PMID: 25372295, 25394566). ClinVar contains an entry for this variant (Variation ID: 544449). Loss-of-function variants in SLC26A4 are known to be pathogenic (PMID: 16283880, 25394566, 26252218, 26445815). For these reasons, this variant has been classified as Pathogenic.

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