Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000649919 | SCV000771755 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2P | 2023-07-10 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 356 of the LRSAM1 protein (p.Leu356Ser). This variant is present in population databases (rs142958539, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with LRSAM1-related conditions. ClinVar contains an entry for this variant (Variation ID: 540005). 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. 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. |
| Ambry Genetics | RCV002406454 | SCV002723630 | uncertain significance | Inborn genetic diseases | 2021-10-15 | criteria provided, single submitter | clinical testing | The p.L356S variant (also known as c.1067T>C), located in coding exon 13 of the LRSAM1 gene, results from a T to C substitution at nucleotide position 1067. The leucine at codon 356 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |