Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003114270 | SCV003787299 | uncertain significance | not provided | 2022-12-14 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs587778712, gnomAD 0.006%). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 135339). This variant has not been reported in the literature in individuals affected with TNFAIP3-related conditions. This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 551 of the TNFAIP3 protein (p.Leu551Phe). |
ITMI | RCV000122154 | SCV000086369 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |