ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3926A>G (p.Glu1309Gly)

gnomAD frequency: 0.00003  dbSNP: rs775060363
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002230581 SCV000552699 uncertain significance Familial adenomatous polyposis 1 2021-08-31 criteria provided, single submitter clinical testing
GeneDx RCV000479602 SCV000568278 uncertain significance not provided 2016-05-02 criteria provided, single submitter clinical testing This variant is denoted APC c.3926A>G at the cDNA level, p.Glu1309Gly (E1309G) at the protein level, and results in the change of a Glutamic Acid to a Glycine (GAA>GGA). This variant was observed in a patient with juvenile polyposis (Kim 1997). APC Glu1309Gly was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Glutamic Acid and Glycine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. APC Glu1309Gly occurs at a position that is not conserved and is located in the 20 amino acid repeat beta-catenin down-regulating domain and within the region responsible for down-regulation through a process mediated by direct ubiquitination (Azzopardi 2008, UniProt). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available evidence, it is unclear whether APC Glu1309Gly is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Color Diagnostics, LLC DBA Color Health RCV000581098 SCV000681640 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-19 criteria provided, single submitter clinical testing

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