Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000002032 | SCV001385510 | pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 2024-01-28 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 101 of the ADA protein (p.Arg101Trp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with ADA-related conditions (PMID: 1974554, 3182793). ClinVar contains an entry for this variant (Variation ID: 1955). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ADA protein function with a positive predictive value of 80%. Experimental studies have shown that this missense change affects ADA function (PMID: 3182793, 9758612). This variant disrupts the p.Arg101 amino acid residue in ADA. Other variant(s) that disrupt this residue have been observed in individuals with ADA-related conditions (PMID: 8023852, 25875700, 29744787), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic. |
| Genome- |
RCV000002032 | SCV001977393 | likely 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 | |
| Baylor Genetics | RCV000002032 | SCV004213467 | likely pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 2023-04-25 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV000002032 | SCV000022190 | pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 1990-08-01 | no assertion criteria provided | literature only | |
| Uni |
RCV000002032 | SCV000090619 | not provided | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | no assertion provided | not provided | ||
| Counsyl | RCV000002032 | SCV000791063 | uncertain significance | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 2017-04-26 | flagged submission | clinical testing |