ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7712C>A (p.Ser2571Tyr)

dbSNP: rs1766544899
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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 RCV002400650 SCV002674848 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-27 criteria provided, single submitter clinical testing The p.S2571Y variant (also known as c.7712C>A), located in coding exon 15 of the APC gene, results from a C to A substitution at nucleotide position 7712. The serine at codon 2571 is replaced by tyrosine, an amino acid with dissimilar 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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