Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000498257 | SCV000590480 | uncertain significance | not provided | 2023-09-15 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); 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 |
Invitae | RCV001319114 | SCV001509844 | uncertain significance | Alstrom syndrome | 2022-09-14 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 117 of the ALMS1 protein (p.Val117Ile). This variant is not present in population databases (gnomAD no frequency). 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: 432725). 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. |
Fulgent Genetics, |
RCV001319114 | SCV002791343 | uncertain significance | Alstrom syndrome | 2022-03-08 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003323572 | SCV004029131 | uncertain significance | not specified | 2023-07-17 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001319114 | SCV002080378 | uncertain significance | Alstrom syndrome | 2021-02-17 | no assertion criteria provided | clinical testing |