ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1115A>G (p.Asn372Ser)

dbSNP: rs1580529465
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Total submissions: 3
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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, LabCorp 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.

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