ClinVar Miner

Submissions for variant NM_000441.1(SLC26A4):c.-157G>A (rs568363861)

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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 RCV000607350 SCV000713179 uncertain significance not specified 2017-06-22 criteria provided, single submitter clinical testing The c.-157G>A variant in SLC26A4 has not been previously reported in individuals with hearing loss, but has been identified in 0.1% (1/838) of Latino chromosome s by the Genome Aggregation Database (gnomAD,; dbSNP rs568363861). Although this variant has been seen in the general populatio n, its frequency is not high enough to rule out a pathogenic role. This variant is in the 5' untranslated region (UTR) of the SLC26A4 gene. It is unknown and c annot be predicted whether or not this variant impacts the protein. In summary, the clinical significance of this variant is uncertain.

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