ClinVar Miner

Submissions for variant NM_001282225.2(ADA2):c.740C>T (p.Ala247Val) (rs750868279)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001035606 SCV001198940 uncertain significance Polyarteritis nodosa, childhoood-onset 2019-12-04 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 247 of the ADA2 protein (p.Ala247Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs750868279, ExAC 0.009%). This variant has been observed in an individual affected with autoinflammatory disease (PMID: 28814775). This gene is also known as ADA2 in the literature. ClinVar contains an entry for this variant (Variation ID: 375251). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Department of Immunology,Hospital Universitario Virgen del Rocio RCV000416344 SCV000493704 pathogenic Behcet's syndrome 2017-01-13 no assertion criteria provided case-control

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