ClinVar Miner

Submissions for variant NM_058195.4(CDKN2A):c.130G>T (p.Ala44Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002385419 SCV002693605 uncertain significance Hereditary cancer-predisposing syndrome 2020-11-13 criteria provided, single submitter clinical testing The p.A44S variant (also known as c.130G>T), located in coding exon 1 of the CDKN2A gene, results from a G to T substitution at nucleotide position 130. The alanine at codon 44 is replaced by serine, an amino acid with similar properties. This amino acid position is 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.

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