ClinVar Miner

Submissions for variant NM_001282225.2(ADA2):c.1465G>C (p.Glu489Gln)

gnomAD frequency: 0.00011  dbSNP: rs45497794
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652058 SCV000773926 uncertain significance Vasculitis due to ADA2 deficiency 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 489 of the ADA2 protein (p.Glu489Gln). This variant is present in population databases (rs45497794, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ADA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 541736). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263907 SCV002543375 uncertain significance Autoinflammatory syndrome 2017-07-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493046 SCV002776028 uncertain significance Sneddon syndrome; Vasculitis due to ADA2 deficiency 2021-11-24 criteria provided, single submitter clinical testing

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