ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.85G>T (p.Glu29Ter) (rs111033205)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036510 SCV000060165 likely pathogenic Rare genetic deafness 2008-03-01 criteria provided, single submitter clinical testing
Counsyl RCV000665064 SCV000789123 likely pathogenic Pendred syndrome 2017-01-10 criteria provided, single submitter clinical testing
Invitae RCV001060131 SCV001224797 pathogenic not provided 2019-12-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu29*) in the SLC26A4 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs111033205, ExAC 0.01%). This variant has not been reported in the literature in individuals with SLC26A4-related conditions. ClinVar contains an entry for this variant (Variation ID: 43569). 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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