ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.249G>A (p.Trp83Ter) (rs1057516658)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409492 SCV000486018 pathogenic Pendred syndrome 2016-03-15 criteria provided, single submitter clinical testing
Invitae RCV001071254 SCV001236548 pathogenic not provided 2019-01-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp83*) 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 to be homozygous or in combination with another SLC26A4 variant in individuals affected with deafness (PMID: 28901477, 28786104, 23185506, 27792752, 25372295). ClinVar contains an entry for this variant (Variation ID: 370650). 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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