ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5038C>T (p.Gln1680Ter) (rs754122018)

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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 RCV000214118 SCV000274096 pathogenic Hereditary cancer-predisposing syndrome 2015-02-25 criteria provided, single submitter clinical testing The p.Q1680* pathogenic mutation (also known as c.5038C>T) located in coding exon 15 of the APC gene, results from a C to T substitution at nucleotide position 5038. This changes the amino acid from a glutamine to a stop codon within coding exon 15. Since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507363 SCV000600109 pathogenic not provided 2016-08-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001260374 SCV001437331 likely pathogenic Familial multiple polyposis syndrome 2020-09-14 criteria provided, single submitter clinical testing Variant summary: APC c.5038C>T (p.Gln1680X) results in a premature termination codon, predicted to cause a truncation of the encoded protein. The variant was absent in 250054 control chromosomes (gnomAD). To our knowledge, no occurrence of c.5038C>T in individuals affected with Familial Adenomatous Polyposis has been reported. One publication reports experimental evidence evaluating an impact on protein function, however, does not allow convincing conclusions about the variant effect (Otsuka_2003). Two ClinVar submitters (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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