Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000985281 | SCV001133295 | uncertain significance | not provided | 2018-10-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002434370 | SCV002747964 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-09-18 | criteria provided, single submitter | clinical testing | The p.N372S variant (also known as c.1115A>G), located in coding exon 9 of the APC gene, results from an A to G substitution at nucleotide position 1115. The asparagine at codon 372 is replaced by serine, an amino acid with highly similar 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003155332 | SCV003845084 | uncertain significance | not specified | 2023-02-21 | criteria provided, single submitter | clinical testing | Variant summary: APC c.1115A>G (p.Asn372Ser) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 250924 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1115A>G in individuals affected with Familial Adenomatous Polyposis and no experimental evidence demonstrating its impact on protein function have been reported. Two ClinVar submitters have assessed the variant since 2014: both classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance. |