Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Genetics Laboratory, |
RCV001173645 | SCV001336747 | uncertain significance | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Mayo Clinic Laboratories, |
RCV001508269 | SCV001714316 | uncertain significance | not provided | 2020-03-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001508269 | SCV002504079 | likely benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Invitae | RCV002557490 | SCV003244576 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2P | 2024-01-16 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 121 of the LRSAM1 protein (p.Arg121His). This variant is present in population databases (rs143910539, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of Charcot-Marie-Tooth disease (PMID: 32376792). ClinVar contains an entry for this variant (Variation ID: 917124). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt LRSAM1 protein function with a negative predictive value of 80%. 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. |