Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001364201 | SCV001560336 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2P | 2023-09-21 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs770259167, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of Charcot-Marie-Tooth disease (Invitae). ClinVar contains an entry for this variant (Variation ID: 1055518). 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 expected to disrupt LRSAM1 protein function. 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. This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 17 of the LRSAM1 protein (p.Arg17Cys). |
Mayo Clinic Laboratories, |
RCV003481094 | SCV004225097 | uncertain significance | not provided | 2022-07-21 | criteria provided, single submitter | clinical testing |