Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000807736 | SCV000947805 | uncertain significance | DPAGT1-congenital disorder of glycosylation; Congenital myasthenic syndrome 13 | 2022-08-15 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 401 of the DPAGT1 protein (p.Leu401Phe). This variant is present in population databases (rs150532554, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with DPAGT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 652219). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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. |
Gene |
RCV001731936 | SCV001982063 | uncertain significance | not provided | 2021-09-27 | criteria provided, single submitter | clinical testing | Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002537265 | SCV003604917 | uncertain significance | Inborn genetic diseases | 2022-02-26 | criteria provided, single submitter | clinical testing | The c.1201C>T (p.L401F) alteration is located in exon 9 (coding exon 9) of the DPAGT1 gene. This alteration results from a C to T substitution at nucleotide position 1201, causing the leucine (L) at amino acid position 401 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |