Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001036121 | SCV001199470 | uncertain significance | Alstrom syndrome | 2019-12-15 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). 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. This variant has not been reported in the literature in individuals with ALMS1-related conditions. This sequence change replaces methionine with lysine at codon 3277 of the ALMS1 protein (p.Met3277Lys). The methionine residue is highly conserved and there is a moderate physicochemical difference between methionine and lysine. |