ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.201_202del (p.Phe68fs)

dbSNP: rs1343161886
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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 RCV001389886 SCV001591408 pathogenic PMM2-congenital disorder of glycosylation 2022-05-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe68Serfs*16) 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 present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with PMM2-related conditions. 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 RCV001389886 SCV005056369 likely pathogenic PMM2-congenital disorder of glycosylation 2024-02-09 criteria provided, single submitter clinical testing

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