Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001226866 | SCV001399194 | uncertain significance | Alstrom syndrome | 2022-09-06 | criteria provided, single submitter | clinical testing | 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. ClinVar contains an entry for this variant (Variation ID: 954416). 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 0.007%). This sequence change replaces aspartic acid with valine at codon 781 of the ALMS1 protein (p.Asp781Val). The aspartic acid residue is moderately conserved and there is a large physicochemical difference between aspartic acid and valine. |
Natera, |
RCV001226866 | SCV002080454 | uncertain significance | Alstrom syndrome | 2020-07-13 | no assertion criteria provided | clinical testing |