ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.304_305delinsTT (p.Ala102Leu)

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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 RCV002444002 SCV002753964 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-14 criteria provided, single submitter clinical testing The c.304_305delGCinsTT variant, located in coding exon 2 of the CDKN2A gene, results from an in-frame deletion of GC and insertion of TT at nucleotide positions 304 to 305. This results in the substitution of the alanine residue for a leucine residue at codon 102, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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