ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1346del (p.Ala449fs)

dbSNP: rs1580542168
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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 RCV001010979 SCV001171250 pathogenic Hereditary cancer-predisposing syndrome 2019-10-08 criteria provided, single submitter clinical testing The c.1346delC pathogenic mutation, located in coding exon 10 of the APC gene, results from a deletion of one nucleotide at nucleotide position 1346, causing a translational frameshift with a predicted alternate stop codon (p.A449Vfs*5). 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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