ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.16G>A (p.Gly6Arg)

dbSNP: rs587778190
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000475370 SCV000545522 uncertain significance Familial melanoma 2024-11-19 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 6 of the CDKN2A (p16INK4a) protein (p.Gly6Arg). This variant is not present in population databases (gnomAD no frequency). 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: 133879). 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.
Ambry Genetics RCV004948188 SCV005559299 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-03 criteria provided, single submitter clinical testing The p.G6R variant (also known as c.16G>A), located in coding exon 1 of the CDKN2A gene, results from a G to A substitution at nucleotide position 16. The glycine at codon 6 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
ITMI RCV000120539 SCV000084692 not provided not specified 2013-09-19 no assertion provided reference population

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