ClinVar Miner

Submissions for variant NM_000022.4(ADA):c.349T>C (p.Trp117Arg)

gnomAD frequency: 0.00001  dbSNP: rs771162170
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001350532 SCV001544937 uncertain significance Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with arginine at codon 117 of the ADA protein (p.Trp117Arg). The tryptophan residue is highly conserved and there is a moderate physicochemical difference between tryptophan and arginine. This variant is present in population databases (rs771162170, ExAC 0.009%). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Fulgent Genetics, Fulgent Genetics RCV001350532 SCV002777963 uncertain significance Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2021-11-02 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001350532 SCV003822573 uncertain significance Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2019-10-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001350532 SCV002095326 uncertain significance Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2020-07-05 no assertion criteria provided clinical testing

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