ClinVar Miner

Submissions for variant NM_001024630.4(RUNX2):c.1171C>T (p.Arg391Ter)

dbSNP: rs397515537
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 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.
GeneReviews RCV000055836 SCV000086827 not provided Cleidocranial dysostosis no assertion provided literature only

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