Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001066596 | SCV001231611 | pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 2019-11-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ADA are known to be pathogenic (PMID: 26255240, 26376800). This variant has been observed in individual(s) with clinical features of adenosine deaminase deficiency (PMID: 26376800). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg324Glyfs*2) in the ADA gene. It is expected to result in an absent or disrupted protein product. |
Genome- |
RCV001066596 | SCV001977460 | pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 2021-08-10 | criteria provided, single submitter | clinical testing |