ClinVar Miner

Submissions for variant NM_006363.6(SEC23B):c.716A>G (p.Asp239Gly)

dbSNP: rs761034212
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
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001199101 SCV001370096 likely pathogenic Congenital dyserythropoietic anemia, type II 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PM3,PP3,PP4,PP5.
Institute of Human Genetics, University Hospital Muenster RCV001199101 SCV002578015 likely pathogenic Congenital dyserythropoietic anemia, type II 2022-08-22 criteria provided, single submitter clinical testing ACMG categories: PM1,PM2,PP3,PP5
Labcorp Genetics (formerly Invitae), Labcorp RCV002559272 SCV003443772 uncertain significance Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 2022-08-07 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 239 of the SEC23B protein (p.Asp239Gly). This variant is present in population databases (rs761034212, gnomAD 0.003%). This missense change has been observed in individual(s) with dyserythropoietic anemia (PMID: 19561605, 33159567). ClinVar contains an entry for this variant (Variation ID: 932011). 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: "Benign"; Align-GVGD: "Class C15"). Experimental studies have shown that this missense change does not substantially affect SEC23B function (PMID: 19561605). 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.

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.