ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.401C>G (p.Ala134Gly)

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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 RCV002359471 SCV002619646 uncertain significance Hereditary cancer-predisposing syndrome 2020-10-15 criteria provided, single submitter clinical testing The p.A134G variant (also known as c.401C>G), located in coding exon 2 of the CDKN2A gene, results from a C to G substitution at nucleotide position 401. The alanine at codon 134 is replaced by glycine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. 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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