Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001239176 | SCV001412027 | uncertain significance | Alstrom syndrome | 2022-08-09 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 2056 of the ALMS1 protein (p.Asn2056Ile). This variant is present in population databases (rs772187394, 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: 964863). 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, |
RCV001239176 | SCV002082823 | uncertain significance | Alstrom syndrome | 2021-05-24 | no assertion criteria provided | clinical testing |