Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002695628 | SCV002995539 | uncertain significance | Alstrom syndrome | 2021-12-22 | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 3108 of the ALMS1 protein (p.Val3108Glu). |
| Ambry Genetics | RCV004066948 | SCV005026798 | uncertain significance | Cardiovascular phenotype | 2023-12-18 | criteria provided, single submitter | clinical testing | The p.V3108E variant (also known as c.9323T>A), located in coding exon 10 of the ALMS1 gene, results from a T to A substitution at nucleotide position 9323. The valine at codon 3108 is replaced by glutamic acid, an amino acid with dissimilar properties. This amino acid position is poorly 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. |