Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000465433 | SCV000541324 | uncertain significance | Alstrom syndrome | 2022-08-09 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 3441 of the ALMS1 protein (p.Arg3441Gly). This variant is present in population databases (rs746702722, gnomAD 0.06%), including at least one homozygous and/or hemizygous individual. 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: 403921). 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. |
Counsyl | RCV000465433 | SCV000789273 | uncertain significance | Alstrom syndrome | 2017-01-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001539961 | SCV001757789 | likely benign | not provided | 2018-11-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002393076 | SCV002702608 | uncertain significance | Cardiovascular phenotype | 2020-10-13 | criteria provided, single submitter | clinical testing | The p.R3441G variant (also known as c.10321A>G), located in coding exon 15 of the ALMS1 gene, results from an A to G substitution at nucleotide position 10321. The arginine at codon 3441 is replaced by glycine, 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. |
Natera, |
RCV000465433 | SCV001465809 | benign | Alstrom syndrome | 2020-11-10 | no assertion criteria provided | clinical testing |