ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4100A>G (p.Gln1367Arg) (rs1399790840)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532247 SCV000647496 uncertain significance Familial adenomatous polyposis 1 2018-07-27 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 1367 of the APC protein (p.Gln1367Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine. 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: 469951). 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: "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.
Ambry Genetics RCV000573595 SCV000667461 uncertain significance Hereditary cancer-predisposing syndrome 2017-09-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000611032 SCV000731322 uncertain significance not specified 2016-12-21 criteria provided, single submitter clinical testing The p.Gln1367Arg variant in APC has not been previously reported in individuals with APC-associated polyposis, but has been identified in 2/126198 of European c hromosomes by the genome Aggregation Database (gnomAD, http:// http://gnomad.bro adinstitute.org). Although the affected amino acid is well conserved in evolutio n, computational pathogenicity prediction tools suggest that this change may not affect the protein. In summary, the clinical significance of the p.Gln1367Arg v ariant is uncertain.
Counsyl RCV000532247 SCV000786322 uncertain significance Familial adenomatous polyposis 1 2018-04-06 criteria provided, single submitter clinical testing

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