Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000407303 | SCV000341140 | uncertain significance | not provided | 2016-05-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000640869 | SCV000762472 | uncertain significance | X-linked lymphoproliferative disease due to XIAP deficiency | 2022-06-04 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 282 of the XIAP protein (p.Glu282Lys). 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: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 287381). This variant has not been reported in the literature in individuals affected with XIAP-related conditions. This variant is present in population databases (rs777303823, gnomAD 0.04%), including at least one homozygous and/or hemizygous individual. |
Fulgent Genetics, |
RCV000764858 | SCV000896014 | uncertain significance | X-linked lymphoproliferative disease due to XIAP deficiency; X-linked lymphoproliferative disease due to SH2D1A deficiency | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002262924 | SCV002543208 | uncertain significance | Autoinflammatory syndrome | 2016-12-12 | criteria provided, single submitter | clinical testing |