Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000670300 | SCV000795135 | uncertain significance | Alstrom syndrome | 2017-10-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001553212 | SCV001774038 | uncertain significance | not provided | 2020-06-01 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002343422 | SCV002648206 | uncertain significance | Cardiovascular phenotype | 2022-09-27 | criteria provided, single submitter | clinical testing | The p.L1829F variant (also known as c.5487G>T), located in coding exon 8 of the ALMS1 gene, results from a G to T substitution at nucleotide position 5487. The leucine at codon 1829 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is well 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, |
RCV000670300 | SCV002080532 | uncertain significance | Alstrom syndrome | 2019-10-28 | no assertion criteria provided | clinical testing |