ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.72del (p.Thr25fs)

dbSNP: rs2060617981
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001382265 SCV001580946 pathogenic PMM2-congenital disorder of glycosylation 2024-01-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr25Profs*11) 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. ClinVar contains an entry for this variant (Variation ID: 1070199). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001382265 SCV002789749 likely pathogenic PMM2-congenital disorder of glycosylation 2021-10-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV001382265 SCV004205261 likely pathogenic PMM2-congenital disorder of glycosylation 2023-09-11 criteria provided, single submitter clinical testing

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