Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000558321 | SCV000640212 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2F | 2019-11-27 | criteria provided, single submitter | clinical testing | This sequence change replaces histidine with glutamine at codon 124 of the HSPB1 protein (p.His124Gln). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and glutamine. This variant is present in population databases (rs145243219, ExAC 0.008%). This variant has not been reported in the literature in individuals with HSPB1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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. |
Athena Diagnostics Inc | RCV000711974 | SCV000842385 | uncertain significance | not provided | 2018-01-25 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001172546 | SCV001335607 | uncertain significance | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing |