ClinVar Miner

Submissions for variant NM_000022.4(ADA):c.643G>A (p.Ala215Thr) (rs114025668)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000059112 SCV000796174 uncertain significance Severe combined immunodeficiency due to ADA deficiency 2017-12-04 criteria provided, single submitter clinical testing
Invitae RCV000059112 SCV000958303 uncertain significance Severe combined immunodeficiency due to ADA deficiency 2018-12-12 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 215 of the ADA protein (p.Ala215Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs114025668, ExAC 0.1%). This variant has been observed in individuals affected with partial ADA deficiency without SCID (PMID: 2166947, 9108404, 9758612, 14499267, 9225964). ClinVar contains an entry for this variant (Variation ID: 1967). Experimental studies have shown that this missense change leads to decreased ADA activity (PMID: 2166947, 9108404, 9361033, 11067872). 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 RCV000002044 SCV000022202 pathogenic Partial adenosine deaminase deficiency 1990-08-01 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059112 SCV000090638 not provided Severe combined immunodeficiency due to ADA deficiency no assertion provided not provided

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