ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.281T>A (p.Leu94Gln)

dbSNP: rs1819703656
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Molecular Diagnostics, Institute of Oncology Ljubljana RCV001310111 SCV001499645 likely pathogenic Melanoma-pancreatic cancer syndrome 2020-04-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005094378 SCV005835678 uncertain significance Familial melanoma 2024-03-09 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 94 of the CDKN2A (p16INK4a) protein (p.Leu94Gln). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with familial cutaneous melanoma (PMID: 14646619). ClinVar contains an entry for this variant (Variation ID: 1012195). 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 disruptive. 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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