ClinVar Miner

Submissions for variant NM_017909.4(RMND1):c.260G>A (p.Arg87His)

gnomAD frequency: 0.00011  dbSNP: rs142059662
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001944819 SCV002129411 uncertain significance not provided 2022-07-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 87 of the RMND1 protein (p.Arg87His). This variant is present in population databases (rs142059662, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with RMND1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1366720). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002506914 SCV002812057 uncertain significance Combined oxidative phosphorylation defect type 11 2022-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002550381 SCV003734633 likely benign Inborn genetic diseases 2021-11-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001944819 SCV003927522 uncertain significance not provided 2023-05-25 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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.