Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV001783818 | SCV002023667 | likely pathogenic | GM3 synthase deficiency | 2019-12-06 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001783818 | SCV004378847 | pathogenic | GM3 synthase deficiency | 2023-09-29 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1325142). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ST3GAL5-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Met94Ilefs*12) in the ST3GAL5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ST3GAL5 are known to be pathogenic (PMID: 15502825, 22990144, 27232954). |