ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4142del (p.Pro1381fs)

dbSNP: rs1580644533
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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 RCV001021943 SCV001183621 pathogenic Hereditary cancer-predisposing syndrome 2019-08-12 criteria provided, single submitter clinical testing The c.4142delC pathogenic mutation, located in coding exon 15 of the APC gene, results from a deletion of one nucleotide at nucleotide position 4142, causing a translational frameshift with a predicted alternate stop codon (p.P1381Hfs*34). 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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