ClinVar Miner

Submissions for variant NM_000022.4(ADA):c.536C>A (p.Ala179Asp)

gnomAD frequency: 0.00001  dbSNP: rs121908727
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000059108 SCV002298678 likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2023-08-28 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 68266). This missense change has been observed in individual(s) with severe lymphopenia (PMID: 7599635, 26255240). This variant is present in population databases (rs121908727, gnomAD 0.004%). This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 179 of the ADA protein (p.Ala179Asp). Experimental studies have shown that this missense change affects ADA function (PMID: 7599635). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Baylor Genetics RCV000059108 SCV004216737 pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2023-10-02 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059108 SCV000090633 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

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