Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostics Laboratory, |
RCV000055836 | SCV001477515 | pathogenic | Cleidocranial dysostosis | 2020-08-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001386486 | SCV001586729 | pathogenic | not provided | 2022-12-02 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this premature translational stop signal affects RUNX2 function (PMID: 10545612). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 65625). This premature translational stop signal has been observed in individual(s) with clinical features of cleidocranial dysplasia (PMID: 10545612, 24222232). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg391*) in the RUNX2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 131 amino acid(s) of the RUNX2 protein. |
Gene |
RCV000055836 | SCV000086827 | not provided | Cleidocranial dysostosis | no assertion provided | literature only |