ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.584_585del (p.His195fs)

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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 RCV003026962 SCV003324108 pathogenic PMM2-congenital disorder of glycosylation 2022-03-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the PMM2 protein in which other variant(s) (p.Cys241Ser) have been determined to be pathogenic (PMID: 11156536, 11715002, 15844218, 21541725, 22012410, 25355454, 26014514). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with PMM2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.His195Argfs*4) in the PMM2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 52 amino acid(s) of the PMM2 protein.
Baylor Genetics RCV003026962 SCV004205302 likely pathogenic PMM2-congenital disorder of glycosylation 2023-02-10 criteria provided, single submitter clinical testing

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