ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3757del (p.Ser1253fs)

dbSNP: rs1114167571
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491231 SCV000579850 pathogenic Hereditary cancer-predisposing syndrome 2016-07-13 criteria provided, single submitter clinical testing The c.3757delT pathogenic mutation, located in coding exon 15 of the APC gene, results from a deletion of one nucleotide at nucleotide position 3757, causing a translational frameshift with a predicted alternate stop codon (p.S1253Lfs*12). 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003235249 SCV003934245 pathogenic Familial multiple polyposis syndrome 2023-05-15 criteria provided, single submitter clinical testing Variant summary: APC c.3757delT (p.Ser1253LeufsX12) results in a premature termination codon and is predicted to cause a truncation of the encoded protein, which is a commonly known mechanism for disease. Although the variant is not predicted to cause absence of the protein through nonsense mediated decay, the variant disrupts the last 1602 amino acids in the protein sequence. Variants downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 249822 control chromosomes (gnomAD). To our knowledge, no occurrence of c.3757delT in individuals affected with Familial Adenomatous Polyposis and no experimental evidence demonstrating its impact on protein function have been reported. One ClinVar submitter has assessed the variant since 2014: the variant was classified as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Myriad Genetics, Inc. RCV003335386 SCV004044080 pathogenic Familial adenomatous polyposis 1 2023-05-09 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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