Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000634807 | SCV000756151 | uncertain significance | Alstrom syndrome | 2022-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 2457 of the ALMS1 protein (p.Ile2457Thr). This variant is present in population databases (no rsID available, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 529395). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 | RCV002386004 | SCV002670449 | uncertain significance | Cardiovascular phenotype | 2022-01-31 | criteria provided, single submitter | clinical testing | The p.I2457T variant (also known as c.7370T>C), located in coding exon 8 of the ALMS1 gene, results from a T to C substitution at nucleotide position 7370. The isoleucine at codon 2457 is replaced by threonine, an amino acid with similar 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. |
| Natera, |
RCV000634807 | SCV002082867 | uncertain significance | Alstrom syndrome | 2021-03-10 | no assertion criteria provided | clinical testing |