ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1264-1G>C (rs111033311)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036433 SCV000060088 pathogenic Rare genetic deafness 2008-08-15 criteria provided, single submitter clinical testing
Counsyl RCV000169533 SCV000221012 likely pathogenic Pendred syndrome 2015-01-08 criteria provided, single submitter literature only
Invitae RCV001378587 SCV001576189 likely pathogenic not provided 2020-10-18 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 10 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 individual(s) with Pendred syndrome (PMID: 15689455, 14679580). ClinVar contains an entry for this variant (Variation ID: 43500). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Natera, Inc. RCV000169533 SCV001459924 pathogenic Pendred syndrome 2020-09-16 no assertion criteria provided clinical testing

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