ClinVar Miner

Submissions for variant NM_153741.2(DPM3):c.266G>A (p.Gly89Glu)

gnomAD frequency: 0.00001  dbSNP: rs758821383
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001057773 SCV001222285 uncertain significance DPM3-congenital disorder of glycosylation 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 89 of the DPM3 protein (p.Gly89Glu). This variant is present in population databases (rs758821383, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with DPM3-related conditions. ClinVar contains an entry for this variant (Variation ID: 853040). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
GeneDx RCV001548228 SCV001768101 uncertain significance not provided 2019-06-14 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect

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