Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000823949 | SCV000964824 | uncertain significance | Charcot-Marie-Tooth disease type 2P | 2018-10-10 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with glutamine at codon 381 of the LRSAM1 protein (p.Arg381Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs145877456, ExAC 0.1%). This variant has not been reported in the literature in individuals with LRSAM1-related disease. 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. 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. |
| Genesis Genome Database | RCV000857214 | SCV000999798 | uncertain significance | Charcot-Marie-Tooth disease | 2019-08-14 | no assertion criteria provided | research |