ClinVar Miner

Submissions for variant NM_000038.6(APC):c.502del (p.Arg168fs)

dbSNP: rs1554071602
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000499978 SCV000591036 pathogenic Familial multiple polyposis syndrome criteria provided, single submitter clinical testing
Ambry Genetics RCV002350113 SCV002646301 pathogenic Hereditary cancer-predisposing syndrome 2019-08-23 criteria provided, single submitter clinical testing The c.502delA pathogenic mutation, located in coding exon 4 of the APC gene, results from a deletion of one nucleotide at nucleotide position 502, causing a translational frameshift with a predicted alternate stop codon (p.R168Efs*2). This mutation was detected in 2/66 probands with a clinical diagnosis of Familial Adenomatous Polyposis (FAP) (Jarry et al. Fam. Cancer 2011 Dec;10(4):659-65). In addition to the clinical data presented in the literature, 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. RCV003335410 SCV004044025 pathogenic Familial adenomatous polyposis 1 2023-04-26 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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