Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001045582 | SCV001209445 | uncertain significance | Alstrom syndrome | 2022-07-19 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 228 of the ALMS1 protein (p.Pro228Ser). This variant is present in population databases (rs756201461, gnomAD 0.003%). 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: 843048). 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. |
Natera, |
RCV001045582 | SCV001453437 | uncertain significance | Alstrom syndrome | 2020-01-24 | no assertion criteria provided | clinical testing |