ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1615-2A>G

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335321 SCV001528448 pathogenic Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 2018-01-18 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported in patients with Pendred syndrome [PMID 21416585, 24224479]
Invitae RCV001389807 SCV001591288 pathogenic not provided 2020-08-14 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 14 of the SLC26A4 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs758823761, ExAC 0.002%). This variant has been observed in individual(s) with Pendred syndrome (PMID: 21416585, 24224479). It has also been observed to segregate with disease in related individuals. It is also known as IVS4-2A>G in the literature. 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). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001389807 SCV001780309 pathogenic not provided 2021-06-03 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in an in-frame deletion of a critical region; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 25394566, 21704276, 21416585, 24224479, 25525159)

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