ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1031G>C (p.Cys344Ser) (rs786201840)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164333 SCV000214964 uncertain significance Hereditary cancer-predisposing syndrome 2014-05-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient or conflicting evidence,Co-occurence with a mutation in another gene that clearly explains a proband's phenotype
Color RCV000164333 SCV000681441 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-08 criteria provided, single submitter clinical testing
Invitae RCV000646466 SCV000768238 uncertain significance Familial adenomatous polyposis 1 2018-01-04 criteria provided, single submitter clinical testing This sequence change replaces cysteine with serine at codon 344 of the APC protein (p.Cys344Ser). The cysteine residue is highly conserved and there is a moderate physicochemical difference between cysteine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with APC-related disease. ClinVar contains an entry for this variant (Variation ID: 184983). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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