ClinVar Miner

Submissions for variant NM_003859.3(DPM1):c.1A>G (p.Met1Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001205494 SCV001376755 likely pathogenic Congenital disorder of glycosylation type 1E 2019-06-16 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the DPM1 mRNA. The next in-frame methionine is located at codon 106. This variant is present in population databases (rs139624629, ExAC 0.02%). This variant has not been reported in the literature in individuals with DPM1-related conditions. This variant disrupts the p.Arg92 amino acid residue in DPM1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 10642597, 10642602, 27481510). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University RCV001205494 SCV001622399 pathogenic Congenital disorder of glycosylation type 1E 2021-05-13 criteria provided, single submitter clinical testing

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