ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1105A>T (p.Lys369Ter)

dbSNP: rs121908361
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668660 SCV000793294 likely pathogenic Pendred syndrome 2017-08-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001040071 SCV001203626 pathogenic not provided 2022-02-16 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 553253). This premature translational stop signal has been observed in individual(s) with SLC26A4-related conditions (PMID: 26397989, 30268946). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys369*) 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). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV001784255 SCV002026821 likely pathogenic Autosomal recessive nonsyndromic hearing loss 4 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000668660 SCV002026832 likely pathogenic Pendred syndrome 2021-09-05 criteria provided, single submitter clinical testing

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