Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001036332 | SCV001199688 | uncertain significance | X-linked lymphoproliferative disease due to XIAP deficiency | 2022-02-10 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine with lysine at codon 280 of the XIAP protein (p.Asn280Lys). The asparagine residue is moderately conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with XIAP-related conditions. ClinVar contains an entry for this variant (Variation ID: 835445). 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: "Possibly Damaging"; Align-GVGD: "Not Available"). 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. |
| Ambry Genetics | RCV003283875 | SCV003962543 | uncertain significance | Inborn genetic diseases | 2023-03-27 | criteria provided, single submitter | clinical testing | The c.840C>G (p.N280K) alteration is located in exon 2 (coding exon 1) of the XIAP gene. This alteration results from a C to G substitution at nucleotide position 840, causing the asparagine (N) at amino acid position 280 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |