ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.237+1G>C

dbSNP: rs202143236
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002002423 SCV002233881 pathogenic Glycogen storage disease, type VII 2021-04-10 criteria provided, single submitter clinical testing Disruption of this splice site has been observed in individual(s) with glycogen storage disease (PMID: 8444874, 8037209). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 4 of the PFKM gene. RNA analysis indicates that this variant induces altered splicing and likely results in a shortened protein product. Studies have shown that disruption of this splice site is associated with skipping of exon 4 (also known as exon 5) but is expected to preserve the integrity of the reading frame (PMID:8444874). For these reasons, this variant has been classified as Pathogenic.

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