ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1263+1G>T

dbSNP: rs1057517000
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409041 SCV000486567 likely pathogenic Pendred syndrome 2016-06-24 criteria provided, single submitter clinical testing
Invitae RCV002523867 SCV002994133 pathogenic not provided 2022-09-05 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 10 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). Disruption of this splice site has been observed in individual(s) with Pendred syndrome (PMID: 23838540). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 371092).
Baylor Genetics RCV003475962 SCV004204243 likely pathogenic Autosomal recessive nonsyndromic hearing loss 4 2022-10-29 criteria provided, single submitter clinical testing

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