ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2499C>G (p.Ser833Arg)

dbSNP: rs1554084221
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003742609 SCV000647240 uncertain significance Familial adenomatous polyposis 1 2022-02-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with APC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 833 of the APC protein (p.Ser833Arg). ClinVar contains an entry for this variant (Variation ID: 469750). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated.
Ambry Genetics RCV003338657 SCV004059135 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-13 criteria provided, single submitter clinical testing The p.S833R variant (also known as c.2499C>G), located in coding exon 15 of the APC gene, results from a C to G substitution at nucleotide position 2499. The serine at codon 833 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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