Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001229102 | SCV001401538 | uncertain significance | Alstrom syndrome | 2022-04-26 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 2797 of the ALMS1 protein (p.Gln2797His). This variant is present in population databases (rs770409935, gnomAD 0.01%). 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: 956322). 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, |
RCV001229102 | SCV002082905 | uncertain significance | Alstrom syndrome | 2020-11-12 | no assertion criteria provided | clinical testing |