ClinVar Miner

Submissions for variant NM_001256071.3(RNF213):c.6169G>A (p.Asp2057Asn)

dbSNP: rs768740459
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
Mendelics RCV002249538 SCV002518981 pathogenic Moyamoya disease 2 2022-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003727830 SCV004539086 uncertain significance not provided 2023-06-20 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 2057 of the RNF213 protein (p.Asp2057Asn). This variant is present in population databases (rs768740459, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with RNF213-related conditions. ClinVar contains an entry for this variant (Variation ID: 684683). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Yale Center for Mendelian Genomics, Yale University RCV000845199 SCV000987135 likely pathogenic Atypical coarctation of aorta 2018-02-26 no assertion criteria provided literature only

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.