ClinVar Miner

Submissions for variant NM_000346.4(SOX9):c.944dup (p.Tyr315Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003604508 SCV004434996 pathogenic Camptomelic dysplasia 2023-02-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the SOX9 protein in which other variant(s) (p.Arg394*) have been determined to be pathogenic (PMID: 31389106; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with SOX9-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr315*) in the SOX9 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 195 amino acid(s) of the SOX9 protein.

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