Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000666649 | SCV000790978 | uncertain significance | Alstrom syndrome | 2017-05-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000666649 | SCV003447669 | uncertain significance | Alstrom syndrome | 2021-10-08 | criteria provided, single submitter | clinical testing | This sequence change replaces cysteine with arginine at codon 4007 of the ALMS1 protein (p.Cys4007Arg). The cysteine residue is weakly conserved and there is a large physicochemical difference between cysteine and arginine. This variant is present in population databases (rs201959964, ExAC 0.001%). 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: 551559). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |