ClinVar Miner

Submissions for variant NM_058195.4(CDKN2A):c.69C>A (p.Phe23Leu)

dbSNP: rs374360796
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411867 SCV000489528 uncertain significance Melanoma-pancreatic cancer syndrome 2016-10-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365449 SCV002665670 uncertain significance Hereditary cancer-predisposing syndrome 2020-12-04 criteria provided, single submitter clinical testing The p.F23L variant (also known as c.69C>A), located in coding exon 1 of the CDKN2A gene, results from a C to A substitution at nucleotide position 69. The phenylalanine at codon 23 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Myriad Genetics, Inc. RCV000411867 SCV004018597 uncertain significance Melanoma-pancreatic cancer syndrome 2023-04-21 criteria provided, single submitter clinical testing This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.

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