ClinVar Miner

Submissions for variant NM_016507.4(CDK12):c.1151T>G (p.Ile384Ser)

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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 RCV004904047 SCV005561532 uncertain significance not specified 2024-12-04 criteria provided, single submitter clinical testing The p.I384S variant (also known as c.1151T>G), located in coding exon 2 of the CDK12 gene, results from a T to G substitution at nucleotide position 1151. The isoleucine at codon 384 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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