Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000506368 | SCV000605393 | pathogenic | not specified | 2017-01-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000648134 | SCV000769948 | uncertain significance | Common variable immunodeficiency 2 | 2019-11-29 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine with arginine at codon 171 of the TNFRSF13B protein (p.Leu171Arg). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and arginine. This variant is present in population databases (rs143027621, ExAC 0.03%). This variant has been reported as homozygous, compound heterozygous, and heterozygous in individuals and families affected with common variable immunodeficiency (PMID: 17983875, 17392798, 19779048, 22697072, 23237420). It has also been observed as heterozygous in asymptomatic individuals from these same families (PMID: 23237420, 22697072). ClinVar contains an entry for this variant (Variation ID: 440340). Experimental studies have shown that this missense change impairs the expression and function of the TACI protein (PMID: 21419480). 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. |
Ce |
RCV000762232 | SCV000892514 | uncertain significance | not provided | 2018-06-01 | criteria provided, single submitter | clinical testing | |
Blueprint Genetics | RCV000762232 | SCV000928296 | uncertain significance | not provided | 2019-03-22 | criteria provided, single submitter | clinical testing |