ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.166A>T (p.Ser56Cys)

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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 RCV002403966 SCV002704412 uncertain significance Hereditary cancer-predisposing syndrome 2022-07-17 criteria provided, single submitter clinical testing The p.S56C variant (also known as c.166A>T), located in coding exon 1 of the CDKN1B gene, results from an A to T substitution at nucleotide position 166. The serine at codon 56 is replaced by cysteine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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