ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.871C>T (p.Arg291Trp) (rs775610413)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000600018 SCV000712107 uncertain significance not specified 2016-05-13 criteria provided, single submitter clinical testing The p.Arg291Trp variant in SLC26A4 has not been previously reported in individua ls with hearing loss or Pendred syndrome, but has been identified in 2/8648 East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadi; dbSNP rs775610413). Although this variant has been seen in the gen eral population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation analyses suggest that this vari ant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Arg291Tr p variant is uncertain.
Natera, Inc. RCV001273163 SCV001455803 uncertain significance Pendred syndrome 2020-09-16 no assertion criteria provided clinical testing

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