ClinVar Miner

Submissions for variant NM_016507.4(CDK12):c.2123G>A (p.Arg708His)

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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 RCV004903875 SCV005560180 uncertain significance not specified 2024-10-05 criteria provided, single submitter clinical testing The p.R708H variant (also known as c.2123G>A), located in coding exon 4 of the CDK12 gene, results from a G to A substitution at nucleotide position 2123. The arginine at codon 708 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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