Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001243609 | SCV001416777 | uncertain significance | X-linked agammaglobulinemia with growth hormone deficiency | 2019-10-25 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. This variant has not been reported in the literature as a germline variant in individuals with BTK-related conditions. ClinVar contains an entry for this variant (Variation ID: 376204). This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with serine at codon 481 of the BTK protein (p.Cys481Ser). The cysteine residue is highly conserved and there is a moderate physicochemical difference between cysteine and serine. |
Clinical Genetics and Genomics, |
RCV001269602 | SCV001449699 | pathogenic | not provided | 2017-08-18 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV001269602 | SCV005411466 | uncertain significance | not provided | 2023-11-22 | criteria provided, single submitter | clinical testing | PP2, PM1, PM2 |