ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.53C>T (p.Thr18Met)

dbSNP: rs560518923
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000571413 SCV000673240 uncertain significance Hereditary cancer-predisposing syndrome 2021-02-18 criteria provided, single submitter clinical testing The p.T18M variant (also known as c.53C>T), located in coding exon 1 of the CDKN2A gene, results from a C to T substitution at nucleotide position 53. The threonine at codon 18 is replaced by methionine, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000793102 SCV000932442 uncertain significance Familial melanoma 2023-01-24 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 485513). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 18 of the CDKN2A (p16INK4a) protein (p.Thr18Met). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV000571413 SCV001340205 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-11 criteria provided, single submitter clinical testing

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