ClinVar Miner

Submissions for variant NM_153741.2(DPM3):c.21G>A (p.Trp7Ter)

dbSNP: rs1444066075
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000815313 SCV000955762 pathogenic DPM3-congenital disorder of glycosylation 2021-04-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the DPM3 protein. Other variant(s) that disrupt this region (p.Gln77*) have been determined to be pathogenic (Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has not been reported in the literature in individuals with DPM3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp7*) in the DPM3 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 86 amino acid(s) of the DPM3 protein.

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