ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.26T>G (p.Met9Arg)

dbSNP: rs145445140
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001016352 SCV001177300 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-20 criteria provided, single submitter clinical testing The p.M9R variant (also known as c.26T>G), located in coding exon 1 of the CDKN2A gene, results from a T to G substitution at nucleotide position 26. The methionine at codon 9 is replaced by arginine, an amino acid with similar properties. This amino acid position is not conserved on limited sequence alignment. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001040669 SCV001204256 uncertain significance Familial melanoma 2025-01-06 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 9 of the CDKN2A (p16INK4a) protein (p.Met9Arg). This variant is present in population databases (rs145445140, gnomAD 0.003%). 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: 821690). 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.
Color Diagnostics, LLC DBA Color Health RCV001016352 SCV001350133 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005047208 SCV005680460 uncertain significance Melanoma-pancreatic cancer syndrome; Melanoma, cutaneous malignant, susceptibility to, 2; Melanoma and neural system tumor syndrome 2024-05-21 criteria provided, single submitter clinical testing

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