ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1343C>A (p.Ser448Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001386693 SCV001587030 pathogenic not provided 2020-05-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser448*) 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 been observed in individual(s) with SLC26A4-related conditions (PMID: 16086271, 25372295, 30554688). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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