Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000489619 | SCV000576710 | uncertain significance | not provided | 2021-11-17 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 26582918) |
Invitae | RCV000526705 | SCV000631807 | uncertain significance | Alstrom syndrome | 2022-08-05 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 2762 of the ALMS1 protein (p.Pro2762Ala). This variant is present in population databases (rs369650940, gnomAD 0.08%). 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: 426304). 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. |
Ambry Genetics | RCV002431428 | SCV002677238 | likely benign | Cardiovascular phenotype | 2021-11-17 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Fulgent Genetics, |
RCV000526705 | SCV002796961 | uncertain significance | Alstrom syndrome | 2022-04-28 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003323567 | SCV004029130 | uncertain significance | not specified | 2023-07-09 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000526705 | SCV002082901 | uncertain significance | Alstrom syndrome | 2021-10-15 | no assertion criteria provided | clinical testing |