ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.687C>G (p.Tyr229Ter)

dbSNP: rs148759949
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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 RCV000795195 SCV000934639 pathogenic PMM2-congenital disorder of glycosylation 2023-07-25 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 641858). 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.Tyr229*) in the PMM2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 18 amino acid(s) of the PMM2 protein.
Fulgent Genetics, Fulgent Genetics RCV000795195 SCV002798441 likely pathogenic PMM2-congenital disorder of glycosylation 2022-01-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV000795195 SCV002092450 likely pathogenic PMM2-congenital disorder of glycosylation 2021-05-03 no assertion criteria provided clinical testing

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