Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001226326 | SCV001398637 | uncertain significance | Severe combined immunodeficiency due to DCLRE1C deficiency | 2021-08-28 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine with glutamic acid at codon 350 of the DCLRE1C protein (p.Lys350Glu). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is present in population databases (rs146859738, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with DCLRE1C-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. |
Natera, |
RCV001833955 | SCV002076436 | uncertain significance | Athabaskan severe combined immunodeficiency | 2020-09-09 | no assertion criteria provided | clinical testing |