Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002824311 | SCV003205624 | uncertain significance | ALG3-congenital disorder of glycosylation | 2022-07-20 | 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. This variant has not been reported in the literature in individuals affected with ALG3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change results in a frameshift in the ALG3 gene (p.Asn397Glufs*99). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 42 amino acid(s) of the ALG3 protein and extend the protein by 56 additional amino acid residues. |