ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.739T>C (p.Ter247Gln)

dbSNP: rs1555453271
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674823 SCV000800224 uncertain significance PMM2-congenital disorder of glycosylation 2018-05-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002509506 SCV002819490 uncertain significance not specified 2022-12-02 criteria provided, single submitter clinical testing Variant summary: PMM2 c.739T>C (p.X247GlnextX15) changes the termination codon and is predicted to lead to an extended protein with additional amino acids added to the normal C-terminus. PMM2 c.739T>C (p.X247GlnextX15) causes a frameshift which results in an extension of the protein. The variant was absent in 250306 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.739T>C in individuals affected with Congenital Disorder Of Glycosylation Type 1a and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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