ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.185_196delinsA (p.Leu62fs)

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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 RCV002412994 SCV002717121 pathogenic Hereditary cancer-predisposing syndrome 2017-12-12 criteria provided, single submitter clinical testing The c.185_196del12insA pathogenic mutation, located in coding exon 2 of the CDKN2A gene, results from the deletion of 12 nucleotides and insertion of one nucleotide causing a translational frameshift with a predicted alternate stop codon (p.L62Qfs*54). 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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