ClinVar Miner

Submissions for variant NM_001282225.2(ADA2):c.145C>T (p.Arg49Trp) (rs199614299)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652051 SCV000773918 uncertain significance Polyarteritis nodosa, childhoood-onset 2019-12-19 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 49 of the ADA2 protein (p.Arg49Trp). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and tryptophan. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in an individual affected with Beh et's disease (PMID: 28814775). ClinVar contains an entry for this variant (Variation ID: 375246). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000997858 SCV001153611 uncertain significance not provided 2019-06-01 criteria provided, single submitter clinical testing
Department of Immunology,Hospital Universitario Virgen del Rocio RCV000416313 SCV000493702 pathogenic Behcet's syndrome 2017-01-13 no assertion criteria provided case-control

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