Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003495034 | SCV004306365 | pathogenic | Fucosidosis | 2023-06-23 | criteria provided, single submitter | clinical testing | This variant is also known as E113fs. For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with fucosidosis (PMID: 9039984). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu119Thrfs*11) in the FUCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FUCA1 are known to be pathogenic (PMID: 10094192). |