ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.279del (p.Ser93fs) (rs786204421)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169009 SCV000220149 likely pathogenic Pendred syndrome 2014-03-06 criteria provided, single submitter literature only
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000507613 SCV000605148 pathogenic not specified 2017-02-09 criteria provided, single submitter clinical testing
Invitae RCV001069158 SCV001234307 pathogenic not provided 2020-01-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser93Argfs*4) in the SLC26A4 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Pendred syndrome (PMID: 9920104, 11716048, 23273637). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 188715). 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.
OMIM RCV000169009 SCV000025274 pathogenic Pendred syndrome 2008-01-01 no assertion criteria provided literature only

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