ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.511dup (p.Thr171fs) (rs1057516323)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411679 SCV000485470 likely pathogenic Carbohydrate-deficient glycoprotein syndrome type I 2015-12-15 criteria provided, single submitter clinical testing
Invitae RCV000411679 SCV000955847 pathogenic Carbohydrate-deficient glycoprotein syndrome type I 2018-10-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr171Asnfs*11) in the PMM2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with mild clinical features of PMM2-congenital disorders of glycosylation (PMID: 25355454). ClinVar contains an entry for this variant (Variation ID: 370217). Loss-of-function variants in PMM2 are known to be pathogenic (PMID: 19862844). For these reasons, this variant has been classified as Pathogenic.

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