Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001068149 | SCV001233240 | uncertain significance | Alstrom syndrome | 2022-07-22 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1485 of the ALMS1 protein (p.Val1485Ile). This variant is present in population databases (rs779113815, gnomAD 0.01%). 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: 861588). 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. |
Gene |
RCV002225791 | SCV002504480 | uncertain significance | not provided | 2022-03-29 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function |
Ambry Genetics | RCV002327354 | SCV002634129 | uncertain significance | Cardiovascular phenotype | 2020-09-09 | criteria provided, single submitter | clinical testing | The p.V1485I variant (also known as c.4453G>A), located in coding exon 8 of the ALMS1 gene, results from a G to A substitution at nucleotide position 4453. The valine at codon 1485 is replaced by isoleucine, an amino acid with highly 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, |
RCV001068149 | SCV002080509 | uncertain significance | Alstrom syndrome | 2021-08-04 | no assertion criteria provided | clinical testing |