Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV000407153 | SCV000446878 | likely benign | 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
| Institute for Genomic Medicine |
RCV000736085 | SCV000864351 | likely benign | not specified | 2017-05-31 | criteria provided, single submitter | clinical testing | BP4, BP6; This alteration is predicted to be tolerated by multiple functional prediction tools, and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory). |
| Labcorp Genetics |
RCV001428710 | SCV001631416 | likely benign | not provided | 2025-01-27 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000736085 | SCV004222731 | likely benign | not specified | 2023-11-16 | criteria provided, single submitter | clinical testing | Variant summary: CFI c.916A>G (p.Ile306Val) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00039 in 251238 control chromosomes, predominantly at a frequency of 0.0051 within the African or African-American subpopulation in the gnomAD database. The observed variant frequency within African or African-American control individuals in the gnomAD database is approximately 4.6 fold of the estimated maximal expected allele frequency for a pathogenic variant in CFI causing Complement Factor I Deficiency phenotype (0.0011), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African or African-American origin. Although seen in literature as a high frequency alteration, to our knowledge, no penetrant association of c.916A>G in individuals affected with Complement Factor I Deficiency has been reported. Three submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign. |