ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.128G>A (p.Arg43His) (rs372116042)

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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 RCV000611863 SCV000711954 uncertain significance not specified 2016-04-21 criteria provided, single submitter clinical testing The p.Arg43His variant in SLC26A4 has not been previously reported in individual s with cardiomyopathy but has been identified in 3/8246 of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs372116042). Although this variant has been seen in the general population, i ts frequency is not high enough to rule out a pathogenic role. Computational pre diction tools and conservation analysis do not provide strong support for or aga inst an impact to the protein. In summary, the clinical significance of the p.Ar g43His variant is uncertain.
Counsyl RCV000664751 SCV000788760 uncertain significance Pendred syndrome 2016-12-29 criteria provided, single submitter clinical testing

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