ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1664C>G (p.Ala555Gly)

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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 RCV002403877 SCV002709077 uncertain significance Hereditary cancer-predisposing syndrome 2019-11-11 criteria provided, single submitter clinical testing The p.A555G variant (also known as c.1664C>G), located in coding exon 13 of the APC gene, results from a C to G substitution at nucleotide position 1664. The alanine at codon 555 is replaced by glycine, an amino acid with similar properties. In addition, in silico predictors for this gene do not accurately predict pathogenicity. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005032263 SCV005667829 uncertain significance Desmoid disease, hereditary; Familial adenomatous polyposis 1; Hepatocellular carcinoma; Gastric cancer; Colorectal cancer; Gastric adenocarcinoma and proximal polyposis of the stomach 2024-03-12 criteria provided, single submitter clinical testing

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