ClinVar Miner

Submissions for variant NM_001382.4(DPAGT1):c.729-4A>C

gnomAD frequency: 0.00041  dbSNP: rs199873583
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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, Illumina 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.
PreventionGenetics, part of Exact Sciences 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).

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