ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.1103A>G (p.Asp368Gly)

dbSNP: rs1555913929
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000568476 SCV000669269 uncertain significance Hereditary cancer-predisposing syndrome 2021-04-13 criteria provided, single submitter clinical testing The p.D368G variant (also known as c.1103A>G), located in coding exon 10 of the CHEK2 gene, results from an A to G substitution at nucleotide position 1103. The aspartic acid at codon 368 is replaced by glycine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV002530306 SCV003219607 uncertain significance Familial cancer of breast 2022-09-14 criteria provided, single submitter clinical testing 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. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 483379). This variant has not been reported in the literature in individuals affected with CHEK2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 368 of the CHEK2 protein (p.Asp368Gly).
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003320475 SCV004024638 uncertain significance not specified 2023-08-15 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.