Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001307835 | SCV001497261 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2Z | 2021-05-30 | criteria provided, single submitter | clinical testing | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals with MORC2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with glycine at codon 433 of the MORC2 protein (p.Ala433Gly). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and glycine. |
Genome |
RCV001307835 | SCV004228680 | not provided | Charcot-Marie-Tooth disease axonal type 2Z | no assertion provided | phenotyping only | Variant interpreted as Uncertain significance and reported on 02-05-2020 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. |