ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.109G>T (p.Glu37Ter)

dbSNP: rs371544695
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001232944 SCV001405518 pathogenic not provided 2022-07-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu37*) 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 a SLC26A4-related condition (PMID: 17718863). ClinVar contains an entry for this variant (Variation ID: 627471). 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 RCV000770855 SCV000902358 pathogenic Autosomal recessive nonsyndromic hearing loss 4 2019-02-26 no assertion criteria provided case-control

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