ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.85G>T (p.Glu29Ter)

dbSNP: rs111033205
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Total submissions: 4
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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 RCV000036510 SCV000060165 likely pathogenic Rare genetic deafness 2008-03-01 criteria provided, single submitter clinical testing
Counsyl RCV000665064 SCV000789123 likely pathogenic Pendred syndrome 2017-01-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001060131 SCV001224797 pathogenic not provided 2023-04-07 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 43569). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with SLC26A4-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Glu29*) 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).
Genome-Nilou Lab RCV000665064 SCV002027673 pathogenic Pendred syndrome 2021-09-05 criteria provided, single submitter clinical testing

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