ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.488_491del (p.Lys163fs)

dbSNP: rs2060678732
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001246105 SCV001419443 pathogenic PMM2-congenital disorder of glycosylation 2023-10-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys163Serfs*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: 970523). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001246105 SCV004205262 likely pathogenic PMM2-congenital disorder of glycosylation 2024-03-30 criteria provided, single submitter clinical testing

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