ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.385C>A (p.His129Asn)

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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 RCV002355530 SCV002622894 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-18 criteria provided, single submitter clinical testing The p.H129N variant (also known as c.385C>A), located in coding exon 1 of the CDKN1B gene, results from a C to A substitution at nucleotide position 385. The histidine at codon 129 is replaced by asparagine, 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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