ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4772C>T (p.Ala1591Val)

dbSNP: rs1580652396
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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 RCV004520700 SCV005032888 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-12 criteria provided, single submitter clinical testing The p.A1591V variant (also known as c.4772C>T), located in coding exon 15 of the APC gene, results from a C to T substitution at nucleotide position 4772. The alanine at codon 1591 is replaced by valine, 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. Based on the available evidence, the clinical significance of this alteration remains unclear.

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