ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4179dup (p.Asp1394Ter)

dbSNP: rs1580644987
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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 RCV001021995 SCV001183682 pathogenic Hereditary cancer-predisposing syndrome 2018-03-08 criteria provided, single submitter clinical testing The c.4179dupT pathogenic mutation, located in coding exon 15 of the APC gene, results from a duplication of T at nucleotide position 4179, causing a translational frameshift with a predicted alternate stop codon (p.D1394*). This alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation.

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