ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.918+1G>T

dbSNP: rs111033245
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000036512 SCV000060167 likely pathogenic Rare genetic deafness 2008-03-01 criteria provided, single submitter clinical testing
Counsyl RCV000667963 SCV000792495 likely pathogenic Pendred syndrome 2017-06-26 criteria provided, single submitter clinical testing
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV000667963 SCV001571755 pathogenic Pendred syndrome 2021-04-12 criteria provided, single submitter clinical testing PVS1_Strong, PS1_Strong, PM2_Moderate, PP4_Supporting
Genome-Nilou Lab RCV000667963 SCV002026732 pathogenic Pendred syndrome 2021-09-05 criteria provided, single submitter clinical testing
Invitae RCV002513387 SCV003241087 pathogenic not provided 2023-06-23 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 7 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 individuals with Pendred syndrome (PMID: 23918157, 27214836). 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: 43571).
Baylor Genetics RCV003473273 SCV004201864 pathogenic Autosomal recessive nonsyndromic hearing loss 4 2023-09-17 criteria provided, single submitter clinical testing

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