ClinVar Miner

Submissions for variant NM_000022.4(ADA):c.367G>A (p.Asp123Asn)

dbSNP: rs1458135388
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756974 SCV000884979 uncertain significance not provided 2018-05-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002298756 SCV002589709 uncertain significance Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2022-08-05 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 123 of the ADA protein (p.Asp123Asn). 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. 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: 618517). This variant has not been reported in the literature in individuals affected with ADA-related conditions. This variant is not present in population databases (gnomAD no frequency).

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