Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001060844 | SCV001225558 | uncertain significance | Severe X-linked myotubular myopathy | 2020-02-18 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs782664128, ExAC 0.02%), including at least one homozygous and/or hemizygous individual. 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. 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with MTM1-related conditions. This sequence change replaces arginine with cysteine at codon 434 of the MTM1 protein (p.Arg434Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. |
Natera, |
RCV001060844 | SCV002084531 | uncertain significance | Severe X-linked myotubular myopathy | 2020-10-25 | no assertion criteria provided | clinical testing |