ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1617delinsTGT (p.Leu540fs)

dbSNP: rs1114167613
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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 RCV000491714 SCV000579934 pathogenic Hereditary cancer-predisposing syndrome 2016-11-18 criteria provided, single submitter clinical testing The c.1617delCinsTGT pathogenic mutation, located in coding exon 12 of the APC gene, results from the deletion of one nucleotide and insertion of 3 nucleotides causing a translational frameshift with a predicted alternate stop codon. 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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