Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002282507 | SCV002570874 | uncertain significance | not specified | 2022-07-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002348858 | SCV002650514 | uncertain significance | Cardiovascular phenotype | 2022-06-06 | criteria provided, single submitter | clinical testing | The p.R1819L variant (also known as c.5456G>T), located in coding exon 8 of the ALMS1 gene, results from a G to T substitution at nucleotide position 5456. The arginine at codon 1819 is replaced by leucine, 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. |
Invitae | RCV001278757 | SCV003255840 | uncertain significance | Alstrom syndrome | 2022-11-01 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 1819 of the ALMS1 protein (p.Arg1819Leu). This variant is present in population databases (rs200925575, gnomAD 0.09%). 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: 990689). 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. |
Center for Genomics, |
RCV001278757 | SCV003919959 | uncertain significance | Alstrom syndrome | 2021-03-30 | criteria provided, single submitter | clinical testing | ALMS1 NM_015120.4 exon 8 p.Arg1817Leu (c.5450G>T): This variant has not been reported in the literature but is present in 0.08% (9/10352) of Ashkenazi Jewish alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/2-73679107-G-T). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
New York Genome Center | RCV001278757 | SCV003925432 | uncertain significance | Alstrom syndrome | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001278757 | SCV001465789 | likely benign | Alstrom syndrome | 2020-10-01 | no assertion criteria provided | clinical testing |