Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000812996 | SCV000953328 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2P | 2023-01-22 | criteria provided, single submitter | clinical testing | 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. 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. ClinVar contains an entry for this variant (Variation ID: 656549). This variant has not been reported in the literature in individuals affected with LRSAM1-related conditions. This variant is present in population databases (rs773122117, gnomAD 0.008%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 354 of the LRSAM1 protein (p.Glu354Lys). |
| Ambry Genetics | RCV002406836 | SCV002716216 | uncertain significance | Inborn genetic diseases | 2021-08-23 | criteria provided, single submitter | clinical testing | The p.E354K variant (also known as c.1060G>A), located in coding exon 13 of the LRSAM1 gene, results from a G to A substitution at nucleotide position 1060. The glutamic acid at codon 354 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |