ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4508del (p.Ser1503fs) (rs1580649018)

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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 RCV001022604 SCV001184359 pathogenic Hereditary cancer-predisposing syndrome 2019-08-07 criteria provided, single submitter clinical testing The c.4508delC pathogenic mutation, located in coding exon 15 of the APC gene, results from a deletion of one nucleotide at nucleotide position 4508, causing a translational frameshift with a predicted alternate stop codon (p.S1503Yfs*4). 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001260339 SCV001437271 likely pathogenic Familial multiple polyposis syndrome 2020-09-03 criteria provided, single submitter clinical testing Variant summary: APC c.4508delC (p.Ser1503TyrfsX4) results in a premature termination codon, predicted to cause a truncation of the encoded protein. The variant was absent in 250312 control chromosomes (gnomAD). To our knowledge, no occurrence of c.4508delC in individuals affected with Familial Adenomatous Polyposis and no experimental evidence demonstrating its impact on protein function have been reported. One ClinVar submitter (evaluation after 2014) cite the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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