Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000503887 | SCV000595575 | uncertain significance | not specified | 2017-02-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000702296 | SCV000831144 | uncertain significance | DNA ligase IV deficiency | 2022-10-17 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 822 of the LIG4 protein (p.Ser822Leu). This variant is present in population databases (rs141441003, gnomAD 0.02%). This missense change has been observed in individual(s) with immunodeficiency (PMID: 11779494). ClinVar contains an entry for this variant (Variation ID: 435752). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. |
Service de Génétique Moléculaire, |
RCV000702296 | SCV001432404 | likely benign | DNA ligase IV deficiency | no assertion criteria provided | clinical testing |