Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000809396 | SCV000949546 | pathogenic | ALG1-congenital disorder of glycosylation | 2018-12-16 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu355Cysfs*3) in the ALG1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ALG1 are known to be pathogenic (PMID: 20679665, 23806237). This variant has not been reported in the literature in individuals with ALG1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. |