ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.640-9T>G (rs370160676)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000780609 SCV000918025 pathogenic Carbohydrate-deficient glycoprotein syndrome type I 2018-08-10 criteria provided, single submitter clinical testing Variant summary: PMM2 c.640-9T>G alters a conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Several computational tools predict a significant impact on normal splicing: Five predict the variant weakens a 3 acceptor site. The splice impact of the variant was confirmed by a functional study (Vega_2008). The variant allele was found at a frequency of 1.2e-05 in 245852 control chromosomes. c.640-9T>G has been reported in the literature in individuals affected with Congenital Disorder of Glycosylation Type 1a. These data indicate that the variant is likely to be associated with disease. 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.

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