Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000554792 | SCV000623247 | uncertain significance | Bloom syndrome | 2017-03-07 | criteria provided, single submitter | clinical testing | In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. 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, but these predictions have not been confirmed by published functional studies. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BLM-related disease. ClinVar contains an entry for this variant (Variation ID: 133715). This sequence change replaces methionine with threonine at codon 571 of the BLM protein (p.Met571Thr). The methionine residue is weakly conserved and there is a moderate physicochemical difference between methionine and threonine. |
| ITMI | RCV000120248 | SCV000084397 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |