ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1692del (p.Lys564fs)

dbSNP: rs746427774
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795419 SCV000934882 pathogenic not provided 2021-10-15 criteria provided, single submitter clinical testing This variant is also known as c.1687-1692delA. This premature translational stop signal has been observed in individual(s) with clinical features of Pendred syndrome (PMID: 19786220). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys564Asnfs*19) 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). ClinVar contains an entry for this variant (Variation ID: 642031). For these reasons, this variant has been classified as Pathogenic.

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