ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4141_4142insGGTC (p.Pro1381fs)

dbSNP: rs1554085560
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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 RCV000574445 SCV000672585 pathogenic Hereditary cancer-predisposing syndrome 2016-11-01 criteria provided, single submitter clinical testing The c.4141_4142insGGTC pathogenic mutation (also known as p.P1381RFS*6), located in coding exon 15 of the APC gene, results from an insertion of 4 nucleotides at position 4141, causing a translational frameshift with a predicted alternate stop codon. 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.
Myriad Genetics, Inc. RCV003335513 SCV004043645 pathogenic Familial adenomatous polyposis 1 2023-05-10 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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