ClinVar Miner

Submissions for variant NM_000022.4(ADA):c.529G>A (p.Val177Met)

gnomAD frequency: 0.00002  dbSNP: rs121908719
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000059107 SCV000798724 likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2018-03-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000059107 SCV000941432 pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2024-01-02 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 177 of the ADA protein (p.Val177Met). This variant is present in population databases (rs121908719, gnomAD 0.006%). This missense change has been observed in individual(s) with ADA-SCID (PMID: 8227344, 26376800). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 68265). 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 with a positive predictive value of 80%. 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 RCV000059107 SCV001977508 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 RCV000059107 SCV004216659 pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2023-10-19 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059107 SCV000090632 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. RCV000059107 SCV001461846 pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2020-09-16 no assertion criteria provided clinical testing

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