ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1147del (p.Gln383fs)

dbSNP: rs1374999656
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668990 SCV000793679 pathogenic Pendred syndrome 2017-08-22 criteria provided, single submitter clinical testing
Invitae RCV001868228 SCV002245965 pathogenic not provided 2020-12-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with Pendred syndrome (PMID: 9618166). ClinVar contains an entry for this variant (Variation ID: 553520). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln383Argfs*49) in the SLC26A4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC26A4 are known to be pathogenic (PMID: 16283880, 25394566, 26252218, 26445815).

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