ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.425C>G (p.Thr142Arg)

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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 RCV002329927 SCV002630818 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-06 criteria provided, single submitter clinical testing The p.T142R variant (also known as c.425C>G), located in coding exon 1 of the CDKN1B gene, results from a C to G substitution at nucleotide position 425. The threonine at codon 142 is replaced by arginine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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