Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000665015 | SCV000789068 | uncertain significance | Alstrom syndrome | 2017-01-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000665015 | SCV002983338 | uncertain significance | Alstrom syndrome | 2022-02-21 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 2273 of the ALMS1 protein (p.Met2273Ile). This variant is present in population databases (rs765233946, gnomAD 0.02%). 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: 550304). 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. |