ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6565A>C (p.Lys2189Gln)

dbSNP: rs1554087525
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000581488 SCV001361366 uncertain significance not specified 2019-09-13 criteria provided, single submitter clinical testing Variant summary: APC c.6565A>C (p.Lys2189Gln) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 249068 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.6565A>C in individuals affected with Familial Adenomatous Polyposis and no experimental evidence demonstrating an impact on protein function have been reported. One ClinVar submission (submission after 2014) cites this variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Mayo Clinic Laboratories, Mayo Clinic RCV000581488 SCV000691760 uncertain significance not specified no assertion criteria provided clinical testing

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