ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.215G>T (p.Cys72Phe)

dbSNP: rs2131095658
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001776693 SCV002013445 uncertain significance not provided 2019-04-25 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002425069 SCV002727266 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-20 criteria provided, single submitter clinical testing The p.C72F variant (also known as c.215G>T), located in coding exon 2 of the CDKN2A gene, results from a G to T substitution at nucleotide position 215. The cysteine at codon 72 is replaced by phenylalanine, an amino acid with highly dissimilar 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.

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