ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.1A>G (p.Met1Val)

gnomAD frequency: 0.00001  dbSNP: rs770655669
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
Illumina Laboratory Services, Illumina RCV001144256 SCV001304845 uncertain significance Atypical hemolytic-uremic syndrome with I factor anomaly 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001858949 SCV002123345 uncertain significance not provided 2020-12-28 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with CFI-related conditions. ClinVar contains an entry for this variant (Variation ID: 899595). This variant is present in population databases (rs770655669, ExAC 0.01%). This sequence change affects the initiator methionine of the CFI mRNA. The next in-frame methionine is located at codon 138.
Fulgent Genetics, Fulgent Genetics RCV002482275 SCV002789384 uncertain significance Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency 2021-12-23 criteria provided, single submitter clinical testing
Yale Center for Mendelian Genomics, Yale University RCV001849476 SCV002106632 likely pathogenic Complement-mediated glomerular disease 2020-05-03 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.