ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.591A>C (p.Gln197His)

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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 RCV004516450 SCV005021546 uncertain significance Hereditary cancer-predisposing syndrome 2023-10-16 criteria provided, single submitter clinical testing The p.Q197H variant (also known as c.591A>C), located in coding exon 2 of the CDKN1B gene, results from an A to C substitution at nucleotide position 591. The glutamine at codon 197 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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