Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000106380 | SCV000818918 | pathogenic | Vasculitis due to ADA2 deficiency | 2023-08-04 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 453 of the ADA2 protein (p.Tyr453Cys). This variant is present in population databases (rs376785840, gnomAD 0.01%). This missense change has been observed in individual(s) with ADA2 deficiency and auto-inflammatory disease in multiple families (PMID: 24552284, 27252897). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 120299). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available". The cysteine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. For these reasons, this variant has been classified as Pathogenic. |
Genome Diagnostics Laboratory, |
RCV002262702 | SCV002543366 | likely pathogenic | Autoinflammatory syndrome | 2020-01-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002477260 | SCV002792488 | pathogenic | Sneddon syndrome; Vasculitis due to ADA2 deficiency | 2021-12-15 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000106380 | SCV000143884 | pathogenic | Vasculitis due to ADA2 deficiency | 2014-03-06 | no assertion criteria provided | literature only | |
Gene |
RCV000106380 | SCV000994594 | not provided | Vasculitis due to ADA2 deficiency | no assertion provided | literature only |