ClinVar Miner

Submissions for variant NM_001282225.2(ADA2):c.435G>C (p.Gln145His)

gnomAD frequency: 0.00004  dbSNP: rs752626692
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002004970 SCV002236089 uncertain significance Vasculitis due to ADA2 deficiency 2022-09-10 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 145 of the ADA2 protein (p.Gln145His). This variant is present in population databases (rs752626692, gnomAD 0.009%). 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: 1450888). 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 RCV002264435 SCV002543388 uncertain significance Autoinflammatory syndrome 2021-08-09 criteria provided, single submitter clinical testing

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