ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2036dup (p.Asn679fs)

dbSNP: rs1131691140
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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 RCV000492947 SCV000581420 pathogenic Hereditary cancer-predisposing syndrome 2013-06-20 criteria provided, single submitter clinical testing This alteration occurs at the 3' terminus of the APC gene and is not expected to trigger nonsense-mediated mRNA decay. However, premature stop codons are typically deleterious in nature, the impacted region is critical for protein function, and a significant portion of the protein is affected (Ambry internal data). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

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