ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.640-23A>G

dbSNP: rs981372486
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001410012 SCV001612053 likely benign PMM2-congenital disorder of glycosylation 2023-10-26 criteria provided, single submitter clinical testing
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) RCV001410012 SCV003920794 pathogenic PMM2-congenital disorder of glycosylation 2023-04-27 criteria provided, single submitter research
Baylor Genetics RCV001410012 SCV004205297 likely pathogenic PMM2-congenital disorder of glycosylation 2023-11-03 criteria provided, single submitter clinical testing
GeneDx RCV004789580 SCV005401119 likely pathogenic not provided 2024-05-16 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; RNA studies demonstrate a damaging effect: c.640-23 A>G results in leaky splicing leading to a proportion of transcripts lacking exon 8 (PMID: 16376131); This variant is associated with the following publications: (PMID: 38587076, 34682117, 16376131, 33643843, 37224763)

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