Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000819399 | SCV000960054 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2P | 2022-07-05 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 661879). This variant has not been reported in the literature in individuals affected with LRSAM1-related conditions. This variant is present in population databases (rs777233045, gnomAD 0.002%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 651 of the LRSAM1 protein (p.Ala651Val). 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 | RCV002415925 | SCV002718344 | uncertain significance | Inborn genetic diseases | 2020-03-16 | criteria provided, single submitter | clinical testing | The p.A651V variant (also known as c.1952C>T), located in coding exon 23 of the LRSAM1 gene, results from a C to T substitution at nucleotide position 1952. The alanine at codon 651 is replaced by valine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. 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. |