ClinVar Miner

Submissions for variant NM_058195.4(CDKN2A):c.95G>A (p.Gly32Glu)

dbSNP: rs370655358
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000561690 SCV000669162 uncertain significance Hereditary cancer-predisposing syndrome 2022-06-28 criteria provided, single submitter clinical testing The p.G32E variant (also known as c.95G>A), located in coding exon 1 of the CDKN2A (p14ARF) gene, results from a G to A substitution at nucleotide position 95. The glycine at codon 32 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001217808 SCV001389660 uncertain significance Familial melanoma 2021-08-12 criteria provided, single submitter clinical testing

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