ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1909C>A (p.Gln637Lys) (rs375645779)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000219513 SCV000272438 uncertain significance not specified 2016-03-22 criteria provided, single submitter clinical testing The p.Gln637Lys variant in SLC26A4 has not been previously reported in individua ls with hearing loss. This variant has been identified in 1/66690 European chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs375645779). Computational prediction tools and conservation analyses s uggest that the p.Gln637Lys variant may not impact the protein, though this info rmation is not predictive enough to rule out pathogenicity. In summary, the clin ical significance of the p.Gln637Lys variant is uncertain.

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