Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000672086 | SCV000797150 | uncertain significance | Alstrom syndrome | 2018-01-15 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002352095 | SCV002648917 | uncertain significance | Cardiovascular phenotype | 2021-08-26 | criteria provided, single submitter | clinical testing | The p.Q1927R variant (also known as c.5780A>G), located in coding exon 8 of the ALMS1 gene, results from an A to G substitution at nucleotide position 5780. The glutamine at codon 1927 is replaced by arginine, 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. |
| Invitae | RCV000672086 | SCV003301326 | uncertain significance | Alstrom syndrome | 2022-11-14 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 556130). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. This variant is present in population databases (rs376161519, gnomAD 0.007%). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 1927 of the ALMS1 protein (p.Gln1927Arg). 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. |