Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000670433 | SCV000795284 | likely pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 2017-11-02 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000670433 | SCV002228217 | pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 2023-06-06 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp117*) in the ADA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ADA are known to be pathogenic (PMID: 26255240, 26376800). This variant is present in population databases (rs749484894, gnomAD 0.004%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 554749). This variant has not been reported in the literature in individuals affected with ADA-related conditions. |
| Baylor Genetics | RCV000670433 | SCV004215841 | pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 2022-02-28 | criteria provided, single submitter | clinical testing |