ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5856G>C (p.Gln1952His)

dbSNP: rs1580664782
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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 RCV001024606 SCV001186647 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-27 criteria provided, single submitter clinical testing The p.Q1952H variant (also known as c.5856G>C), located in coding exon 15 of the APC gene, results from a G to C substitution at nucleotide position 5856. The glutamine at codon 1952 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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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