ClinVar Miner

Submissions for variant NM_000346.4(SOX9):c.331G>A (p.Ala111Thr)

dbSNP: rs1425166755
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624587 SCV000741053 pathogenic Inborn genetic diseases 2015-09-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003424192 SCV004117402 likely pathogenic SOX9-related condition 2022-09-08 criteria provided, single submitter clinical testing The SOX9 c.331G>A variant is predicted to result in the amino acid substitution p.Ala111Thr. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant has been reported de novo in an individual with features consistent with campomelic dysplasia (Internal Data, PreventionGenetics). This variant is interpreted as likely pathogenic.

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