ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.38_68del (p.Ala13fs)

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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 RCV002355181 SCV002622776 pathogenic Hereditary cancer-predisposing syndrome 2022-06-06 criteria provided, single submitter clinical testing The c.38_68del31 pathogenic mutation, located in coding exon 1 of the CDKN2A gene, results from a deletion of 31 nucleotides at nucleotide positions 38 to 68, causing a translational frameshift with a predicted alternate stop codon (p.A13Vfs*3). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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