Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000534380 | SCV000655818 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2Z | 2017-06-08 | criteria provided, single submitter | clinical testing | In summary, this variant has uncertain impact on MORC2 function. The available evidence is currently insufficient to determine its role 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 tolerated, 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 a MORC2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with serine at codon 838 of the MORC2 protein (p.Ala838Ser). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and serine. |