ClinVar Miner

Submissions for variant NM_000022.4(ADA):c.500A>G (p.Glu167Gly)

gnomAD frequency: 0.00001  dbSNP: rs372671189
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000811381 SCV000951644 uncertain significance Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glycine at codon 167 of the ADA protein (p.Glu167Gly). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and glycine. This variant is present in population databases (rs372671189, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with ADA-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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.
Natera, Inc. RCV000811381 SCV001455705 uncertain significance Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2020-01-06 no assertion criteria provided clinical testing

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