ClinVar Miner

Submissions for variant NM_000022.4(ADA):c.698C>T (p.Thr233Ile)

dbSNP: rs121908729
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000059113 SCV001567149 uncertain significance Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 233 of the ADA protein (p.Thr233Ile). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with partial adenosine deaminase deficiency (PMID: 9225964). ClinVar contains an entry for this variant (Variation ID: 1980). 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. Experimental studies have shown that this missense change affects ADA function (PMID: 9225964). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV000002057 SCV000022215 pathogenic Partial adenosine deaminase deficiency 1997-07-01 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059113 SCV000090640 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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