ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.55del (p.Ser19fs)

gnomAD frequency: 0.00002  dbSNP: rs1057516634
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410259 SCV000485981 likely pathogenic Pendred syndrome 2016-03-10 criteria provided, single submitter clinical testing
Invitae RCV001381391 SCV001579768 pathogenic not provided 2023-11-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser19Alafs*47) 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 present in population databases (no rsID available, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with Pendred syndrome (PMID: 26969326). ClinVar contains an entry for this variant (Variation ID: 370620). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000410259 SCV002027628 likely pathogenic Pendred syndrome 2021-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV000410259 SCV002079958 pathogenic Pendred syndrome 2020-06-05 no assertion criteria provided clinical testing

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