ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1678G>A (p.Asp560Asn) (rs759360026)

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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 RCV000215204 SCV000272437 uncertain significance not specified 2015-05-28 criteria provided, single submitter clinical testing The p.Asp560Asn variant in SLC26A4 has been reported in 1 Chinese individual wit h nonsyndromic hearing loss (Yuan 2012). However, information was not provided r egarding if this individual had a second SLC26A4 variant or temporal bone abnorm alities consistent with SLC26A4-related hearing loss. This variant was also iden tified in 3/120123 chromosomes by the Exome Aggregation Consortium (ExAC, http:/ /exac.broadinstitute.org). Although this variant has been seen in the general po pulation, its frequency is low enough to be consistent with a recessive carrier frequency. Computational prediction tools and conservation analyses suggest that the Asp560Asn variant may impact the protein, though this information is not pr edictive enough to determine pathogenicity. In summary, the clinical significanc e of the Asp560Asn variant is uncertain.

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