ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2507C>T (p.Ser836Leu)

dbSNP: rs1580623270
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004561887 SCV000940236 uncertain significance Familial adenomatous polyposis 1 2018-10-16 criteria provided, single submitter clinical testing 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. 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: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with APC-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with leucine at codon 836 of the APC protein (p.Ser836Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine.
Ambry Genetics RCV004649328 SCV005150433 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-18 criteria provided, single submitter clinical testing The p.S836L variant (also known as c.2507C>T), located in coding exon 15 of the APC gene, results from a C to T substitution at nucleotide position 2507. The serine at codon 836 is replaced by leucine, 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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