ClinVar Miner

Submissions for variant NM_017909.4(RMND1):c.188A>G (p.Asn63Ser)

gnomAD frequency: 0.00003  dbSNP: rs374223733
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001927528 SCV002158817 uncertain significance not provided 2022-10-05 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with RMND1-related conditions. 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1395019). This variant is present in population databases (rs374223733, gnomAD 0.002%). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 63 of the RMND1 protein (p.Asn63Ser).
Fulgent Genetics, Fulgent Genetics RCV002490163 SCV002778318 uncertain significance Combined oxidative phosphorylation defect type 11 2021-08-12 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001927528 SCV005408035 uncertain significance not provided 2023-06-15 criteria provided, single submitter clinical testing BP4, PM2_moderate

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.