Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000691102 | SCV000818845 | uncertain significance | Alstrom syndrome | 2022-10-13 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 191 of the ALMS1 protein (p.Leu191Met). This variant is present in population databases (rs375838474, gnomAD 0.1%). This missense change has been observed in individual(s) with cone rod retinal dystrophy (PMID: 32856788). ClinVar contains an entry for this variant (Variation ID: 570278). 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. |
Gene |
RCV001861907 | SCV002107269 | uncertain significance | not provided | 2022-01-07 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32856788) |
Ambry Genetics | RCV002343459 | SCV002650626 | likely benign | Cardiovascular phenotype | 2021-12-28 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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, |
RCV000691102 | SCV002794026 | uncertain significance | Alstrom syndrome | 2022-05-11 | criteria provided, single submitter | clinical testing |