ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6422G>A (p.Gly2141Glu)

gnomAD frequency: 0.00001  dbSNP: rs755626455
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003176340 SCV003855129 uncertain significance Hereditary cancer-predisposing syndrome 2023-02-17 criteria provided, single submitter clinical testing The p.G2141E variant (also known as c.6422G>A), located in coding exon 15 of the APC gene, results from a G to A substitution at nucleotide position 6422. The glycine at codon 2141 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is conserved. 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.

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