ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.66+1del

dbSNP: rs1555495965
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665463 SCV000789593 likely pathogenic PMM2-congenital disorder of glycosylation 2017-02-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000665463 SCV002789181 likely pathogenic PMM2-congenital disorder of glycosylation 2021-12-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000665463 SCV003498720 pathogenic PMM2-congenital disorder of glycosylation 2023-12-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (Splice site) in the PMM2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PMM2 are known to be pathogenic (PMID: 19862844). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PMM2-related conditions. This variant is also known as c.66+1del. ClinVar contains an entry for this variant (Variation ID: 550661). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000665463 SCV004205294 likely pathogenic PMM2-congenital disorder of glycosylation 2023-03-20 criteria provided, single submitter clinical testing

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