ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter)

dbSNP: rs786204581
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169324 SCV000220657 likely pathogenic Pendred syndrome 2014-08-28 criteria provided, single submitter literature only
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000625825 SCV000746386 pathogenic Autosomal recessive nonsyndromic hearing loss 4 2019-01-01 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000169324 SCV000746470 likely pathogenic Pendred syndrome 2017-12-03 criteria provided, single submitter clinical testing
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine RCV000625825 SCV000924204 pathogenic Autosomal recessive nonsyndromic hearing loss 4 criteria provided, single submitter research
Genome-Nilou Lab RCV000625825 SCV002026553 pathogenic Autosomal recessive nonsyndromic hearing loss 4 2021-09-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV000625825 SCV004201820 pathogenic Autosomal recessive nonsyndromic hearing loss 4 2023-10-28 criteria provided, single submitter clinical testing
Invitae RCV003556211 SCV004294534 pathogenic not provided 2023-10-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg79*) in the SLC26A4 gene. It is expected to result in an absent or disrupted protein product. 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). This premature translational stop signal has been observed in individual(s) with clinical features of SLC26A4-related conditions (PMID: 19648736, 26969326, 32645618, 34416374). ClinVar contains an entry for this variant (Variation ID: 188950). 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.
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital RCV000625825 SCV000902380 pathogenic Autosomal recessive nonsyndromic hearing loss 4 2019-02-26 no assertion criteria provided case-control

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