ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer) (rs786204601)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169357 SCV000220728 likely pathogenic Pendred syndrome 2014-09-24 criteria provided, single submitter literature only
Invitae RCV001237469 SCV001410230 pathogenic not provided 2019-09-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu507*) in the SLC26A4 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with sensorineural hearing loss (PMID: 21961810, 28786104). ClinVar contains an entry for this variant (Variation ID: 188978). 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.
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital RCV000770865 SCV000902374 pathogenic Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 2019-02-26 no assertion criteria provided case-control

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