ClinVar Miner

Submissions for variant NM_000022.4(ADA):c.385G>A (p.Val129Met)

dbSNP: rs121908731
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000059099 SCV000941333 pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2023-08-21 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 129 of the ADA protein (p.Val129Met). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with adenosine deaminase deficiency (PMID: 10200056, 26255240, 26376800). ClinVar contains an entry for this variant (Variation ID: 68260). 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: 9758612). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000059099 SCV001977516 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 RCV000059099 SCV004216804 pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2023-09-16 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059099 SCV000090623 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
Natera, Inc. RCV000059099 SCV002095323 pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2020-09-12 no assertion criteria provided clinical testing

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