ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1957G>C (p.Val653Leu) (rs1554361014)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523909 SCV000621368 uncertain significance not provided 2017-10-12 criteria provided, single submitter clinical testing The V653L variant in the SLC26A4 gene has been reported previously as a benign variant; however, no additional evidence was provided (Gardner et al., 2006). This variant is not observed in large population cohorts (Lek et al., 2016). The V653L variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret V653L as a variant of uncertain significance.

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