ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7147G>C (p.Gly2383Arg)

gnomAD frequency: 0.00002  dbSNP: rs1008025963
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000566762 SCV000667440 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-19 criteria provided, single submitter clinical testing The p.G2383R variant (also known as c.7147G>C), located in coding exon 15 of the APC gene, results from a G to C substitution at nucleotide position 7147. The glycine at codon 2383 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. 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.
Invitae RCV003537115 SCV000825945 uncertain significance Familial adenomatous polyposis 1 2023-08-11 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 2383 of the APC protein (p.Gly2383Arg). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with APC-related conditions. ClinVar contains an entry for this variant (Variation ID: 482282). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt APC protein function. 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001800783 SCV001470116 uncertain significance not specified 2020-08-25 criteria provided, single submitter clinical testing
GeneDx RCV001284366 SCV001790424 uncertain significance not provided 2023-08-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Observed in an individual with an advanced cancer (Mandelker et al., 2017); This variant is associated with the following publications: (PMID: 18199528, 28873162)
Sema4, Sema4 RCV000566762 SCV002527457 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-02 criteria provided, single submitter curation
Baylor Genetics RCV002526847 SCV004202243 uncertain significance Familial adenomatous polyposis 1 2023-07-03 criteria provided, single submitter clinical testing

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