Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000785093 | SCV000923650 | uncertain significance | DPAGT1-congenital disorder of glycosylation | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000785094 | SCV000923651 | uncertain significance | Congenital myasthenic syndrome 13 | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002535718 | SCV003317916 | uncertain significance | DPAGT1-congenital disorder of glycosylation; Congenital myasthenic syndrome 13 | 2022-02-21 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 634577). This variant has not been reported in the literature in individuals affected with DPAGT1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 66 of the DPAGT1 protein (p.Phe66Ser). |