ClinVar Miner

Submissions for variant NM_153741.2(DPM3):c.208G>A (p.Ala70Thr)

gnomAD frequency: 0.00001  dbSNP: rs776662775
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001229343 SCV001401785 uncertain significance DPM3-congenital disorder of glycosylation 2020-01-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with DPM3-related conditions. This variant is present in population databases (rs776662775, ExAC 0.01%). This sequence change replaces alanine with threonine at codon 70 of the DPM3 protein (p.Ala70Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. 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. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain.

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