Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001060196 | SCV001224872 | likely pathogenic | ALG2-congenital disorder of glycosylation; Congenital myasthenic syndrome 14 | 2022-06-20 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 2699). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies have shown that this premature translational stop signal affects ALG2 function (PMID: 12684507). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. This premature translational stop signal has been observed in individuals with ALG2-related disease (PMID: 12684507; Invitae). This variant is present in population databases (rs387906281, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Gly347Valfs*27) in the ALG2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 70 amino acid(s) of the ALG2 protein. |
OMIM | RCV002221144 | SCV000022976 | pathogenic | Congenital disorder of glycosylation type II | 2003-06-20 | no assertion criteria provided | literature only |