Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000648331 | SCV000604023 | likely benign | Agammaglobulinemia 2, autosomal recessive | 2023-08-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000648331 | SCV000770147 | uncertain significance | Agammaglobulinemia 2, autosomal recessive | 2023-12-20 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 206 of the IGLL1 protein (p.Thr206Ser). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with IGLL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 439824). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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. |
New York Genome Center | RCV000648331 | SCV002097667 | uncertain significance | Agammaglobulinemia 2, autosomal recessive | 2020-07-09 | criteria provided, single submitter | clinical testing |