Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001339774 | SCV001533543 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2P | 2020-02-02 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with LRSAM1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with isoleucine at codon 352 of the LRSAM1 protein (p.Ser352Ile). The serine residue is highly conserved and there is a large physicochemical difference between serine and isoleucine. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C35"). 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 | RCV002412060 | SCV002715800 | uncertain significance | Inborn genetic diseases | 2021-08-04 | criteria provided, single submitter | clinical testing | The p.S352I variant (also known as c.1055G>T), located in coding exon 13 of the LRSAM1 gene, results from a G to T substitution at nucleotide position 1055. The serine at codon 352 is replaced by isoleucine, an amino acid with dissimilar 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. |