Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000526182 | SCV000652039 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2P | 2023-04-21 | 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 expected to disrupt LRSAM1 protein function. ClinVar contains an entry for this variant (Variation ID: 472806). This missense change has been observed in individual(s) with clinical features of LRSAM1-related conditions (Invitae). This variant is present in population databases (rs376566243, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 305 of the LRSAM1 protein (p.Arg305Trp). |
| Ambry Genetics | RCV002377153 | SCV002688612 | uncertain significance | Inborn genetic diseases | 2020-01-17 | criteria provided, single submitter | clinical testing | The p.R305W variant (also known as c.913C>T), located in coding exon 12 of the LRSAM1 gene, results from a C to T substitution at nucleotide position 913. The arginine at codon 305 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is well 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. |