ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.600+2T>A

dbSNP: rs1057516881
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412454 SCV000486372 pathogenic Pendred syndrome 2016-05-19 criteria provided, single submitter clinical testing
Invitae RCV002523863 SCV003440083 pathogenic not provided 2023-11-28 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 5 of the SLC26A4 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site 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). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with clinical features of SLC26A4-related conditions (PMID: 23151025, 23918157, 25372295, 35816303). This variant is also known as 5+2T>A or IVS5+2T>A. ClinVar contains an entry for this variant (Variation ID: 370937). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003475958 SCV004201910 pathogenic Autosomal recessive nonsyndromic hearing loss 4 2023-06-19 criteria provided, single submitter clinical testing

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