Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000674117 | SCV000799393 | likely benign | Alstrom syndrome | 2018-04-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000674117 | SCV002120570 | uncertain significance | Alstrom syndrome | 2021-03-26 | 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 557917). This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 3838 of the ALMS1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ALMS1 protein. |