ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.256-2A>G

dbSNP: rs1057516372
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410134 SCV000485546 likely pathogenic PMM2-congenital disorder of glycosylation 2015-12-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000410134 SCV000956936 pathogenic PMM2-congenital disorder of glycosylation 2022-11-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site results in skipping of exons 3 and 4 and introduces a premature termination codon (PMID: 19235233). The resulting mRNA is expected to undergo nonsense-mediated decay. ClinVar contains an entry for this variant (Variation ID: 370282). Disruption of this splice site has been observed in individual(s) with congenital disorder of glycosylation type 1a (PMID: 19235233). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change affects an acceptor splice site in intron 3 of the PMM2 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000410134 SCV001369687 pathogenic PMM2-congenital disorder of glycosylation 2019-12-13 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PS2,PM2,PP5.
Fulgent Genetics, Fulgent Genetics RCV000410134 SCV002794920 likely pathogenic PMM2-congenital disorder of glycosylation 2022-03-23 criteria provided, single submitter clinical testing

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