ClinVar Miner

Submissions for variant NM_001282225.2(ADA2):c.362T>C (p.Met121Thr)

gnomAD frequency: 0.00006  dbSNP: rs189403607
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000808454 SCV000948563 uncertain significance Vasculitis due to ADA2 deficiency 2024-01-25 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 121 of the ADA2 protein (p.Met121Thr). This variant is present in population databases (rs189403607, 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: 652810). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ADA2 protein function with a negative predictive value of 80%. 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 RCV002263999 SCV002543386 uncertain significance Autoinflammatory syndrome 2021-03-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501093 SCV002807008 uncertain significance Sneddon syndrome; Vasculitis due to ADA2 deficiency 2022-02-11 criteria provided, single submitter clinical testing

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