ClinVar Miner

Submissions for variant NM_021957.4(GYS2):c.547C>T (p.Gln183Ter) (rs201157731)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199810 SCV000251594 pathogenic not provided 2014-07-16 criteria provided, single submitter clinical testing p.Gln183Stop (CAG>TAG): c.547 C>T in exon 4 of the GYS2 gene (NM_021957.3). The Q183X nonsense mutation in the GYS2 gene has been reported in association with glycogen storage disease, type 0. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is found in MITONUC-MITOP panel(s).
Eurofins NTD, LLC RCV000199810 SCV000860991 pathogenic not provided 2018-04-23 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763306 SCV000893973 pathogenic Glycogen storage disease due to hepatic glycogen synthase deficiency 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000763306 SCV001379253 pathogenic Glycogen storage disease due to hepatic glycogen synthase deficiency 2019-09-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln183*) in the GYS2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs201157731, ExAC 0.02%). This variant has been observed in an individual affected with glycogen storage disease type 0 (PMID: 12072888). ClinVar contains an entry for this variant (Variation ID: 214529). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in GYS2 are known to be pathogenic (PMID: 9691087). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000763306 SCV001520627 pathogenic Glycogen storage disease due to hepatic glycogen synthase deficiency 2019-02-22 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
PerkinElmer Genomics RCV000763306 SCV002024937 pathogenic Glycogen storage disease due to hepatic glycogen synthase deficiency 2020-06-29 no assertion criteria provided clinical testing

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