ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.55del (p.Ala19fs)

dbSNP: rs1596481889
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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 RCV000816023 SCV000956511 pathogenic PMM2-congenital disorder of glycosylation 2018-07-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PMM2 are known to be pathogenic (PMID: 19862844). This variant has not been reported in the literature in individuals with PMM2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ala19Profs*17) in the PMM2 gene. It is expected to result in an absent or disrupted protein product.
Baylor Genetics RCV000816023 SCV004205324 likely pathogenic PMM2-congenital disorder of glycosylation 2022-02-18 criteria provided, single submitter clinical testing

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