ClinVar Miner

Submissions for variant NM_153741.2(DPM3):c.41T>C (p.Leu14Pro) (rs778481307)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000709623 SCV000934235 uncertain significance Congenital disorder of glycosylation type 1O 2018-08-07 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 14 of the DPM3 protein (p.Leu14Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is present in population databases (rs778481307, ExAC 0.002%). This variant has been observed as homozygous in an individual affected with DPM3-congenital disorder of glycosylation (PMID: 28803818). This variant is also known as p.Leu44Pro in the literature. 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. 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.
OMIM RCV000709623 SCV000839585 pathogenic Congenital disorder of glycosylation type 1O 2018-10-09 no assertion criteria provided literature only

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