ClinVar Miner

Submissions for variant NM_000441.1(SLC26A4):c.-189A>T (rs111033440)

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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 RCV000036414 SCV000060069 uncertain significance not specified 2017-06-22 criteria provided, single submitter clinical testing The c.-189A>T variant has been previously observed by our lab in 1 individual wi th hearing loss and EVA in the heterozygous state. This variant has been identi fied in 3/15002 European chromosomes and in 0.1% (1/838) Latino chromosomes by t he Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs111033440). Although this variant has been seen in the general population, i ts frequency is not high enough to rule out a pathogenic role. This variant is i n the 5' untranslated region (UTR) of the SLC26A4 gene. It is unknown and canno t be predicted whether or not this variant impacts the protein. In summary, the clinical significance of this variant is uncertain.

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