ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5020G>A (p.Gly1674Arg)

dbSNP: rs899555020
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000708968 SCV000838127 uncertain significance Familial adenomatous polyposis 1 2018-07-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001824870 SCV002074356 uncertain significance not specified 2022-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343579 SCV002645519 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-27 criteria provided, single submitter clinical testing The p.G1674R variant (also known as c.5020G>A), located in coding exon 15 of the APC gene, results from a G to A substitution at nucleotide position 5020. The glycine at codon 1674 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV000708968 SCV004196489 uncertain significance Familial adenomatous polyposis 1 2023-10-15 criteria provided, single submitter clinical testing

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