Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001362065 | SCV001558065 | uncertain significance | Alstrom syndrome | 2022-06-14 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 3790 of the ALMS1 protein (p.Arg3790Trp). This variant is present in population databases (rs752623561, gnomAD 0.004%). 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: 1053690). 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 | RCV002322327 | SCV002611077 | uncertain significance | Cardiovascular phenotype | 2021-05-27 | criteria provided, single submitter | clinical testing | The p.R3790W variant (also known as c.11368C>T), located in coding exon 16 of the ALMS1 gene, results from a C to T substitution at nucleotide position 11368. The arginine at codon 3790 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species; however, tryptophan is the reference amino acid in other 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, |
RCV001362065 | SCV002079009 | uncertain significance | Alstrom syndrome | 2020-08-20 | no assertion criteria provided | clinical testing |