ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1343C>A (p.Ser448Ter)

dbSNP: rs747076316
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001386693 SCV001587030 pathogenic not provided 2020-05-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser448*) in the SLC26A4 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Loss-of-function variants in SLC26A4 are known to be pathogenic (PMID: 16283880, 25394566, 26252218, 26445815). This variant has been observed in individual(s) with SLC26A4-related conditions (PMID: 16086271, 25372295, 30554688). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001386693 SCV002577256 pathogenic not provided 2022-04-01 criteria provided, single submitter clinical testing Nonsense 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 (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 16086271, 30554688, 34335733, 30275481, 21961810, 34170635, 33597575, 25372295)
Baylor Genetics RCV003473969 SCV004201899 pathogenic Autosomal recessive nonsyndromic hearing loss 4 2023-08-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005038199 SCV005673630 likely pathogenic Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome 2024-06-22 criteria provided, single submitter clinical testing

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