ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1645A>T (p.Arg549Ter)

dbSNP: rs2129317899
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001380680 SCV001578808 pathogenic not provided 2020-09-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg549*) in the SLC26A4 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SLC26A4-related conditions. 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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