Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001068778 | SCV001233910 | uncertain significance | Alstrom syndrome | 2021-12-01 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 862116). 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. This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1354 of the ALMS1 protein (p.Pro1354Ser). |