ClinVar Miner

Submissions for variant NM_000077.4(CDKN2A):c.341C>T (p.Pro114Leu) (rs121913386)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000569438 SCV000669192 likely pathogenic Hereditary cancer-predisposing syndrome 2016-11-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Well-characterized mutation at same position,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Other strong data supporting pathogenic classification,Deficient protein function in appropriate functional assay(s)
Invitae RCV000795116 SCV000934558 uncertain significance Hereditary cutaneous melanoma 2018-12-20 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 114 of the CDKN2A (p16INK4a) protein (p.Pro114Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with melanoma (PMID: 9856841, 21462282). Segregation studies have not been reported. ClinVar contains an entry for this variant (Variation ID: 77637). This variant has been reported to affect CDKN2A (p16INK4a) protein function (PMID: 7777060, 7777061, 8668202, 9328469, 9053859, 12606942, 21462282). 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.
Database of Curated Mutations (DoCM) RCV000424989 SCV000505627 likely pathogenic Cutaneous melanoma 2015-07-14 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000442671 SCV000505898 likely pathogenic Squamous cell carcinoma of the skin 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000425751 SCV000505899 likely pathogenic Malignant melanoma of skin 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000435136 SCV000505900 likely pathogenic Squamous cell lung carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000444494 SCV000505901 likely pathogenic Squamous cell carcinoma of the head and neck 2016-05-31 no assertion criteria provided literature only

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