ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.279del (p.Ser93fs)

gnomAD frequency: 0.00004  dbSNP: rs786204421
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169009 SCV000220149 likely pathogenic Pendred syndrome 2014-03-06 criteria provided, single submitter literature only
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507613 SCV000605148 pathogenic not specified 2017-02-09 criteria provided, single submitter clinical testing
Invitae RCV001069158 SCV001234307 pathogenic not provided 2024-01-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser93Argfs*4) 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 (rs786204421, gnomAD 0.003%). This premature translational stop signal has been observed in individuals with Pendred syndrome (PMID: 9920104, 11716048, 23273637). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 188715). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000169009 SCV002026575 pathogenic Pendred syndrome 2021-09-05 criteria provided, single submitter clinical testing
GeneDx RCV001069158 SCV002044073 pathogenic not provided 2021-12-22 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 11317356, 11716048, 23273637, 18285825, 14679580, 17940114, 31589614, 9920104, 26752218)
Baylor Genetics RCV003474895 SCV004201898 pathogenic Autosomal recessive nonsyndromic hearing loss 4 2023-08-07 criteria provided, single submitter clinical testing
OMIM RCV000169009 SCV000025274 pathogenic Pendred syndrome 2008-01-01 no assertion criteria provided literature only
Natera, Inc. RCV000169009 SCV002079966 pathogenic Pendred syndrome 2021-05-23 no assertion criteria provided clinical testing

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