Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000649921 | SCV000771757 | uncertain significance | Charcot-Marie-Tooth disease type 2P | 2018-08-16 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine with isoleucine at codon 131 of the LRSAM1 protein (p.Thr131Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs772202137, ExAC 0.02%). This variant has not been reported in the literature in individuals with LRSAM1-related disease. ClinVar contains an entry for this variant (Variation ID: 540007). 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. |
| Molecular Genetics Laboratory, |
RCV001173635 | SCV001336737 | uncertain significance | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing |