ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs) (rs786204450)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169076 SCV000220245 likely pathogenic Pendred syndrome 2014-04-15 criteria provided, single submitter literature only
Invitae RCV001214282 SCV001385957 pathogenic not provided 2020-05-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser517Phefs*10) in the SLC26A4 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs776972633, ExAC 0.03%). This variant has been observed in individuals affected with non-syndromic hearing loss (PMID: 20842945, 19786220, 21704276). ClinVar contains an entry for this variant (Variation ID: 188759). 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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