Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001979251 | SCV002252026 | uncertain significance | Leukocyte adhesion deficiency type II | 2021-08-25 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine with arginine at codon 136 of the SLC35C1 protein (p.Lys136Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs766282342, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with SLC35C1-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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |