ClinVar Miner

Submissions for variant NM_001282225.2(ADA2):c.570C>A (p.Thr190=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224743 SCV003920525 likely benign Sneddon syndrome; Vasculitis due to ADA2 deficiency 2022-04-29 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest MAF: 0.002% (2/113476) https://gnomad.broadinstitute.org/variant/2-175432798-G-A?dataset=gnomad_r2_1). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant suggests that this variant does not cause disease but requires further evidence. Therefore, this variant is classified as likely benign.

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