Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000780352 | SCV000917542 | benign | not specified | 2018-02-27 | criteria provided, single submitter | clinical testing | Variant summary: IFNGR1 c.200+15T>G alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00042 in 276552 control chromosomes in the gnomAD database, including 1 homozygote. The observed variant frequency is approximately 671 fold above the estimated maximal expected allele frequency for a pathogenic variant in IFNGR1 causing Interferon Gamma Receptor Deficiency phenotype (6.3e-07), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.200+15T>G in individuals affected with Interferon Gamma Receptor Deficiency and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as benign. |
| Illumina Laboratory Services, |
RCV001156055 | SCV001317533 | likely benign | Immunodeficiency 27A | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
| Labcorp Genetics |
RCV002234172 | SCV001730919 | benign | Disseminated atypical mycobacterial infection | 2025-01-20 | criteria provided, single submitter | clinical testing | |
| Breakthrough Genomics, |
RCV004707409 | SCV005227765 | likely benign | not provided | criteria provided, single submitter | not provided |