ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.918+2T>C (rs912147281)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409090 SCV000485339 likely pathogenic Pendred syndrome 2015-11-20 criteria provided, single submitter clinical testing
Baylor Genetics RCV000409090 SCV001163091 pathogenic Pendred syndrome criteria provided, single submitter clinical testing
Invitae RCV001217246 SCV001389080 pathogenic not provided 2020-09-24 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 7 of the SLC26A4 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be homozygous or in combination with another SLC26A4 variant in individuals affected with clinical features of Pendred syndrome (PMID: 23918157, 27214836). ClinVar contains an entry for this variant (Variation ID: 370108). Donor and acceptor splice site variants 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). For these reasons, this variant has been classified as Pathogenic.
Laboratory of Human Genetics, Institute of Biosciences - University of Sao Paulo RCV000770872 SCV001809841 uncertain significance Deafness, autosomal recessive 4, with enlarged vestibular aqueduct criteria provided, single submitter research
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital RCV000770872 SCV000902385 pathogenic Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 2019-02-26 no assertion criteria provided case-control

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