ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.2242C>G (p.Leu748Val) (rs727504813)

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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 RCV000156148 SCV000205863 uncertain significance not specified 2013-11-13 criteria provided, single submitter clinical testing The Leu748Val variant in SLC26A4 has not been previously reported in individuals with hearing loss or in large population studies. Computational tools (amino a cid biochemical properties, conservation, SIFT, AlignGVGD, PolyPhen-2) suggest t hat this variant may not impact the protein, though this information is not pred ictive enough to rule out pathogenicity. In summary, additional information is n eeded to determine the clinical significance of this variant.

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