ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6679G>A (p.Gly2227Ser)

dbSNP: rs367905430
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000582163 SCV000687090 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000582163 SCV002661771 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-21 criteria provided, single submitter clinical testing The p.G2227S variant (also known as c.6679G>A), located in coding exon 15 of the APC gene, results from a G to A substitution at nucleotide position 6679. The glycine at codon 2227 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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