ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr) (rs111033454)

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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 RCV000036508 SCV000060163 likely pathogenic Rare genetic deafness 2015-06-19 criteria provided, single submitter clinical testing The p.Cys282Tyr variant in SLC26A4 has been identified by our laboratory in 2 in dividuals with hearing loss, one of whom also had EVA and carried a second, path ogenic SLC26A4 variant. This variant has also been identified in 2/66676 Europea n chromosomes by the Exome Aggregation Consortium (http://exac.broadinstitute.or g; dbSNP rs111033454). Although this variant has been seen in the general popula tion, its frequency is low enough to be consistent with a recessive carrier freq uency. Computational prediction tools and conservation analysis suggest that thi s variant may impact the protein, though this information is not predictive enou gh to determine pathogenicity. In summary, due to its identification in combinat ion with a reported pathogenic variant in an individual with hearing loss and EV A, the p.Cys282Tyr variant is likely pathogenic; however, additional studies are required to fully establish its clinical significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000396295 SCV000343642 uncertain significance not provided 2016-08-30 criteria provided, single submitter clinical testing

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