ClinVar Miner

Submissions for variant NM_001024630.4(RUNX2):c.622C>T (p.Pro208Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV004720555 SCV005326516 uncertain significance Cleidocranial dysostosis 2024-08-02 criteria provided, single submitter clinical testing The c.622C>T variant is not present in publicly available population databases like 1000 Genomes, EVS, ExAC, gnomAD, Indian Exome Database or our in-house exome database. This variant has neither been published in literature with RUNX2 related conditions nor reported to the clinical databases like ClinVar, Human Genome Mutation Database (HGMD) or OMIM, in any affected individuals. In-silico pathogenicity prediction programs like SIFT, PolyPhen-2, MutationTaster2021, CADD, Franklin, Varsome etc predicted this variant to be likely deleterious, however these predictions were not confirmed by published functional studies. This variant is located in a mutational hotspot region of the gene.

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