ClinVar Miner

Submissions for variant NM_021957.4(GYS2):c.1156C>T (p.Arg386Ter)

gnomAD frequency: 0.00010  dbSNP: rs146195866
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000690083 SCV000817760 pathogenic Glycogen storage disorder due to hepatic glycogen synthase deficiency 2020-12-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GYS2 are known to be pathogenic (PMID: 9691087). This variant has not been reported in the literature in individuals with GYS2-related disease. This variant is present in population databases (rs146195866, ExAC 0.02%). This sequence change creates a premature translational stop signal (p.Arg386*) in the GYS2 gene. It is expected to result in an absent or disrupted protein product.
Fulgent Genetics, Fulgent Genetics RCV000690083 SCV000893970 pathogenic Glycogen storage disorder due to hepatic glycogen synthase deficiency 2018-10-31 criteria provided, single submitter clinical testing

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