Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001236703 | SCV001409437 | uncertain significance | Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid with valine at codon 329 of the IGHMBP2 protein (p.Glu329Val). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with IGHMBP2-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: "Deleterious"; 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. |
Mayo Clinic Laboratories, |
RCV001509407 | SCV001716101 | uncertain significance | not provided | 2019-04-27 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001509407 | SCV003813296 | uncertain significance | not provided | 2019-07-10 | criteria provided, single submitter | clinical testing |