ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.324del (p.Ile110fs) (rs1555449314)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670380 SCV000795225 likely pathogenic Carbohydrate-deficient glycoprotein syndrome type I 2017-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000599337 SCV000709891 pathogenic not provided 2017-11-06 criteria provided, single submitter clinical testing The c.324delG pathogenic variant in the PMM2 gene has been reported previously in association with congenital disorder of glycosylation type 1a (CDG-1a) (Mattijs et al., 1998). The deletion causes a frameshift starting with codon Isoleucine 110, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 18 of the new reading frame, denoted p.Ile110LeufsX18. This variant is not observed in large population cohorts (Lek et al., 2016). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense mediated mRNA decay.

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