ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5783A>G (p.Gln1928Arg)

dbSNP: rs2149949104
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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 RCV002359724 SCV002648920 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-13 criteria provided, single submitter clinical testing The p.Q1928R variant (also known as c.5783A>G), located in coding exon 15 of the APC gene, results from an A to G substitution at nucleotide position 5783. The glutamine at codon 1928 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, in silico predictors for this gene do not accurately predict pathogenicity. Based on the available evidence, the clinical significance of this alteration remains unclear.

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