ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.2090-1G>A (rs1455597424)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669355 SCV000794101 likely pathogenic Pendred syndrome 2017-09-13 criteria provided, single submitter clinical testing
Invitae RCV001052316 SCV001216521 likely pathogenic not provided 2019-04-16 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 18 of the SLC26A4 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in a family affected with enlarged vestibular aqueduct (PMID: 28964290). ClinVar contains an entry for this variant (Variation ID: 553831). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SLC26A4 are known to be pathogenic (PMID: 16283880, 25394566, 26252218, 26445815). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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