Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000527258 | SCV000623311 | uncertain significance | Bloom syndrome | 2021-08-24 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with aspartic acid at codon 1129 of the BLM protein (p.Gly1129Asp). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with BLM-related conditions. 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: "Probably 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. |
Natera, |
RCV000527258 | SCV002090561 | uncertain significance | Bloom syndrome | 2018-07-16 | no assertion criteria provided | clinical testing |