ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.25G>T (p.Glu9Ter)

dbSNP: rs758648839
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001386210 SCV001586349 pathogenic not provided 2020-05-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SLC26A4 are known to be pathogenic (PMID: 16283880, 25394566, 26252218, 26445815). This variant has not been reported in the literature in individuals with SLC26A4-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Glu9*) in the SLC26A4 gene. It is expected to result in an absent or disrupted protein product.

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