ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6740C>A (p.Ser2247Tyr)

dbSNP: rs1320484906
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003773059 SCV002255705 uncertain significance Familial adenomatous polyposis 1 2020-11-17 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with APC-related conditions. This sequence change replaces serine with tyrosine at codon 2247 of the APC protein (p.Ser2247Tyr). The serine residue is highly conserved and there is a large physicochemical difference between serine and tyrosine. This variant is not present in population databases (ExAC no frequency).
Ambry Genetics RCV004044711 SCV005033831 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-29 criteria provided, single submitter clinical testing The p.S2247Y variant (also known as c.6740C>A), located in coding exon 15 of the APC gene, results from a C to A substitution at nucleotide position 6740. The serine at codon 2247 is replaced by tyrosine, an amino acid with dissimilar 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003773059 SCV005053617 uncertain significance Familial adenomatous polyposis 1 2024-03-27 criteria provided, single submitter clinical testing

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