Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001041522 | SCV001205143 | pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 2019-03-30 | criteria provided, single submitter | clinical testing | This variant has been observed in combination with another ADA variant in an individual affected with adenosine deaminase deficiency (PMID: 18952502). This variant is also known as 800delG in the literature. 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 is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu236Trpfs*75) in the ADA gene. It is expected to result in an absent or disrupted protein product. |
Genome- |
RCV001041522 | SCV001977497 | 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 |