ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7376C>G (p.Ser2459Cys)

dbSNP: rs1580681726
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003653386 SCV000955487 uncertain significance Familial adenomatous polyposis 1 2019-05-10 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with APC-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with cysteine at codon 2459 of the APC protein (p.Ser2459Cys). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and cysteine.
Ambry Genetics RCV001026344 SCV001188706 uncertain significance Hereditary cancer-predisposing syndrome 2019-09-25 criteria provided, single submitter clinical testing The p.S2459C variant (also known as c.7376C>G), located in coding exon 15 of the APC gene, results from a C to G substitution at nucleotide position 7376. The serine at codon 2459 is replaced by cysteine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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