ClinVar Miner

Submissions for variant NM_001024630.4(RUNX2):c.642C>G (p.His214Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004962604 SCV005495392 uncertain significance Inborn genetic diseases 2024-12-04 criteria provided, single submitter clinical testing The c.642C>G (p.H214Q) alteration is located in exon 5 (coding exon 4) of the RUNX2 gene. This alteration results from a C to G substitution at nucleotide position 642, causing the histidine (H) at amino acid position 214 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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