ClinVar Miner

Submissions for variant NM_000346.4(SOX9):c.413C>A (p.Thr138Lys)

dbSNP: rs1555629043
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523771 SCV000621869 likely pathogenic not provided 2017-10-25 criteria provided, single submitter clinical testing The T138K variant in the SOX9 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The T138K variant is not observed in large population cohorts (Lek et al., 2016). The T138K variant is a semi-conservative amino acid substitution, which occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret T138K as a likely pathogenic variant.

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