ClinVar Miner

Submissions for variant NM_000441.1(SLC26A4):c.(?_305)_(415_?)dup (p.(?))

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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, Mass General Brigham Personalized Medicine RCV000601023 SCV000731320 likely pathogenic Rare genetic deafness 2017-05-02 criteria provided, single submitter clinical testing The duplication of exon 4 in the SLC26A4 gene has been identified by our laborat ory to have occurred likely in trans with a likely pathogenic variant in 1 indiv idual with hearing loss and EVA. It has not been reported in large population s tudies. However, exact breakpoints of this deletion cannot be determined. In sum mary, although additional studies are required to fully establish its clinical s ignificance, this variant is likely pathogenic based on likely biallelic status, consistent specific clinical features, and extremely low frequency in the gener al population.

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