ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.6G>C (p.Glu2Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002364782 SCV002665311 uncertain significance Hereditary cancer-predisposing syndrome 2019-08-27 criteria provided, single submitter clinical testing The p.E2D variant (also known as c.6G>C), located in coding exon 1 of the CDKN2A gene, results from a G to C substitution at nucleotide position 6. The glutamic acid at codon 2 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is conserved on limited sequence alignment. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003746624 SCV004401727 uncertain significance Familial melanoma 2023-07-11 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 2 of the CDKN2A (p16INK4a) protein (p.Glu2Asp). This variant has not been reported in the literature in individuals affected with CDKN2A (p16INK4a)-related conditions. ClinVar contains an entry for this variant (Variation ID: 1756617). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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