ClinVar Miner

Submissions for variant NM_058195.4(CDKN2A):c.121G>A (p.Ala41Thr)

gnomAD frequency: 0.00001  dbSNP: rs1064793582
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483036 SCV000566513 uncertain significance not provided 2019-09-20 criteria provided, single submitter clinical testing 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; No data available from control populations to assess the frequency of this variant; Results in the change of an Alanine to a Threonine (GCC>ACC) in exon 1 of the p14-ARF protein.
Labcorp Genetics (formerly Invitae), Labcorp RCV000547575 SCV000637431 uncertain significance Familial melanoma 2021-07-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356769 SCV002655996 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-26 criteria provided, single submitter clinical testing The p.A41T variant (also known as c.121G>A), located in coding exon 1 of the CDKN2A (p14ARF) gene, results from a G to A substitution at nucleotide position 121. The alanine at codon 41 is replaced by threonine, an amino acid with similar properties. This amino acid position is well conserved on limited sequence alignment. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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