Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000640084 | SCV004102831 | likely benign | Immunodeficiency 104 | 2023-11-14 | reviewed by expert panel | curation | The c.1231A>G (NM_002185.5) variant in IL7R is a missense variant predicted to cause substitution of Threonine by Alanine at amino acid 411 (p.Thr411Ala). The filtering allele frequency (the lower threshold of the 95% CI of 329/24950) of the c.1231A>G variant in IL7R is 0.01172 in exomes (4 homozygous reported) and 0.01126 in genomes (1 homozygous reported) for African/African American chromosomes by gnomAD v2.1.1. Both values are higher than the ClinGen SCID VCEP threshold (0.00126) for BS1 and therefore meet this criterion (BS1). Five (05) adult homozygous individuals with this variant are present in gnomAD v2.1.1 (African/African American)(BS2_Supporting). The variant has not been identified in the literature. In summary, this variant meets the criteria to be classified as Likely Benign for autosomal recessive SCID based on the ACMG/AMP criteria applied, as specified by the ClinGen SCID VCEP. Criteria applied: BS1 and BS2_Supporting. (VCEP specifications version 1). |
Gene |
RCV000121223 | SCV000513282 | likely benign | not specified | 2017-03-03 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000640084 | SCV000761672 | benign | Immunodeficiency 104 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000640084 | SCV002808513 | likely benign | Immunodeficiency 104 | 2022-02-18 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003457640 | SCV004185263 | benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | IL7R: BP4, BS1, BS2 |
ITMI | RCV000121223 | SCV000085394 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |