ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.66+1G>T (rs937726878)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000780612 SCV000992590 likely pathogenic Carbohydrate-deficient glycoprotein syndrome type I 2019-07-03 criteria provided, single submitter research
Integrated Genetics/Laboratory Corporation of America RCV000780612 SCV000918028 likely pathogenic Carbohydrate-deficient glycoprotein syndrome type I 2018-11-15 criteria provided, single submitter clinical testing Variant summary: PMM2 c.66+1G>T 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. The variant was absent in 215042 control chromosomes (gnomAD). c.66+1G>T has been reported in the literature in individuals affected with Congenital Disorder of Glycosylation Type 1a (Le Bizec_2005, Leticee_2010, Monin_2014). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. 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 likely pathogenic.

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