ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1766A>C (p.Gln589Pro) (rs397516422)

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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 RCV000036458 SCV000060113 uncertain significance not specified 2013-02-05 criteria provided, single submitter clinical testing The Gln589Pro variant in SLC26A4 has not been reported in the literature nor pre viously identified by our laboratory. In addition, this variant has not been ide ntified in large and broad ethnically-matched populations by NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS). Computational analyses (biochemi cal amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. In summary, addi tional information is needed to fully assess the clinical significance of the Gl n589Pro variant.

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