ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1708-1G>A

gnomAD frequency: 0.00001  dbSNP: rs759414956
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000722237 SCV001577812 likely pathogenic not provided 2020-12-29 criteria provided, single submitter clinical testing 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. 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. This variant has been observed in individual(s) with sensorineural deafness and enlarged vestibular aqueduct (PMID: 8964290). ClinVar contains an entry for this variant (Variation ID: 591061). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 15 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).
Baylor Genetics RCV003472258 SCV004201928 likely pathogenic Autosomal recessive nonsyndromic hearing loss 4 2023-05-27 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000722237 SCV000853368 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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