ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1431del (p.Glu477fs)

dbSNP: rs1554081640
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000569036 SCV000667775 pathogenic Hereditary cancer-predisposing syndrome 2017-07-18 criteria provided, single submitter clinical testing The c.1431delA pathogenic mutation, located in coding exon 11 of the APC gene, results from a deletion of one nucleotide at nucleotide position 1431, causing a translational frameshift with a predicted alternate stop codon (p.E477Dfs*21). 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.
Myriad Genetics, Inc. RCV004562448 SCV004044172 pathogenic Familial adenomatous polyposis 1 2023-05-01 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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