Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000440337 | SCV000527849 | likely benign | not specified | 2017-05-24 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000650502 | SCV000772348 | benign | DPAGT1-congenital disorder of glycosylation; Congenital myasthenic syndrome 13 | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001108106 | SCV001265307 | uncertain significance | DPAGT1-congenital disorder of glycosylation | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Ambry Genetics | RCV002521787 | SCV003551372 | uncertain significance | Inborn genetic diseases | 2021-05-24 | criteria provided, single submitter | clinical testing | The c.729-4A>C intronic alteration consists of a A to C substitution 4 nucleotides before coding exon 6 in the DPAGT1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Prevention |
RCV003912721 | SCV004728444 | benign | DPAGT1-related condition | 2019-09-18 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |