ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.316G>C (p.Val106Leu)

dbSNP: rs775860099
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001768277 SCV002008805 uncertain significance not provided 2019-05-08 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 that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002324192 SCV002607734 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-31 criteria provided, single submitter clinical testing The p.V106L variant (also known as c.316G>C), located in coding exon 2 of the CDKN2A gene, results from a G to C substitution at nucleotide position 316. The valine at codon 106 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.

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