ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.256-1G>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000008166 SCV000918029 pathogenic Carbohydrate-deficient glycoprotein syndrome type I 2018-09-17 criteria provided, single submitter clinical testing Variant summary: PMM2 c.256-1G>C is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Five predict the variant abolishes a 3 acceptor site. The variant allele was found at a frequency of 1.2e-05 in 246156 control chromosomes. c.256-1G>C has been reported in the literature in an individual affected with Congenital Disorder of Glycosylation Type 1a who had <10% PMM activity and whose fibroblasts showed skipping of exons 3 and 4 (Vega_2008). No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.
OMIM RCV000008166 SCV000028371 pathogenic Carbohydrate-deficient glycoprotein syndrome type I 2009-05-01 no assertion criteria provided literature only

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