Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001348939 | SCV001543266 | uncertain significance | Alstrom syndrome | 2020-03-03 | 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. 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 variant is not present in population databases (ExAC no frequency). This sequence change replaces phenylalanine with valine at codon 1759 of the ALMS1 protein (p.Phe1759Val). The phenylalanine residue is weakly conserved and there is a small physicochemical difference between phenylalanine and valine. |