ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.-167G>T

dbSNP: rs1596481676
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000813204 SCV000953549 pathogenic PMM2-congenital disorder of glycosylation 2023-12-30 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the PMM2 gene. It does not change the encoded amino acid sequence of the PMM2 protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individuals with clinical features of PMM2-congenital disorder of glycosylation (PMID: 28373276). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 656718). Studies have shown that this variant alters PMM2 gene expression (PMID: 28373276). For these reasons, this variant has been classified as Pathogenic.
Molecular Biology Laboratory, Fundació Puigvert RCV000813204 SCV001425248 pathogenic PMM2-congenital disorder of glycosylation 2020-02-01 criteria provided, single submitter research
GeneDx RCV002225740 SCV002504342 pathogenic not provided 2019-08-15 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect (Cabezas et al., 2017); This variant is associated with the following publications: (PMID: 28373276, 32595772, 33580824, 32841164, 34055813)
Baylor Genetics RCV000813204 SCV004205271 pathogenic PMM2-congenital disorder of glycosylation 2023-07-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV000813204 SCV002089457 pathogenic PMM2-congenital disorder of glycosylation 2021-02-28 no assertion criteria provided clinical testing

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