ClinVar Miner

Submissions for variant NM_001282225.2(ADA2):c.355G>A (p.Val119Met)

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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 RCV002582164 SCV003492171 uncertain significance Vasculitis due to ADA2 deficiency 2022-06-15 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals affected with ADA2-related conditions. This variant is present in population databases (rs769161033, gnomAD 0.005%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 119 of the ADA2 protein (p.Val119Met).
Fulgent Genetics, Fulgent Genetics RCV005034721 SCV005663728 uncertain significance Sneddon syndrome; Vasculitis due to ADA2 deficiency 2024-01-20 criteria provided, single submitter clinical testing

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