ClinVar Miner

Submissions for variant NM_000290.4(PGAM2):c.533del (p.Gly178fs) (rs747947171)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714736 SCV000845464 likely pathogenic Glycogen storage disease type X 2018-08-07 criteria provided, single submitter clinical testing
GeneDx RCV001570366 SCV001794650 likely pathogenic not provided 2019-04-15 no assertion criteria provided clinical testing Frameshift variant in the C-terminus predicted to result in protein truncation, as the last 76 amino acids are lost and replaced with 30 incorrect amino acids; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 31589614, 30310767, 29382405)

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