ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.463A>G (p.Met155Val) (rs201931861)

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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 RCV000223419 SCV000272442 uncertain significance not specified 2016-01-21 criteria provided, single submitter clinical testing The p.Met155Val variant in SLC26A4 has been previously reported in at least one individual with hearing loss (Chen 2011, Haraksingh 2014); however, a variant af fecting the remaining copy of SLC26A4 was not reported. This variant was identi fied in 1/66738 European and 4/8654 East Asian chromosomes by the Exome Aggregat ion Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs201931861); howeve r its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p .Met155Val variant is uncertain.

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