ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.385T>G (p.Tyr129Asp)

dbSNP: rs1554653923
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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 RCV000573593 SCV000664587 uncertain significance Hereditary cancer-predisposing syndrome 2017-06-04 criteria provided, single submitter clinical testing The p.Y129D variant (also known as c.385T>G), located in coding exon 2 of the CDKN2A gene, results from a T to G substitution at nucleotide position 385. The tyrosine at codon 129 is replaced by aspartic acid, an amino acid with highly dissimilar properties. This amino acid position is highly conserved through mammals but not in all available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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