Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000671197 | SCV000796149 | uncertain significance | Alstrom syndrome | 2017-12-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000671197 | SCV002149140 | uncertain significance | Alstrom syndrome | 2022-02-23 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine with isoleucine at codon 3840 of the ALMS1 protein (p.Thr3840Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs376255515, gnomAD 0.004%). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 555381). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. |
Fulgent Genetics, |
RCV000671197 | SCV002784437 | uncertain significance | Alstrom syndrome | 2021-11-16 | criteria provided, single submitter | clinical testing |