ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.175_212del (p.Val59fs)

dbSNP: rs876658511
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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 RCV000222672 SCV000273858 pathogenic Hereditary cancer-predisposing syndrome 2015-02-06 criteria provided, single submitter clinical testing The c.175_212del38 pathogenic mutation, located in coding exon 2 of the CDKN2A gene, results from a deletion of 38 nucleotides positions 175 to 212, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

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