ClinVar Miner

Submissions for variant NM_021957.4(GYS2):c.465del (p.Phe155fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001206520 SCV001377831 pathogenic Glycogen storage disease due to hepatic glycogen synthase deficiency 2019-09-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe155Leufs*4) in the GYS2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs763929651, ExAC 0.002%). This variant has not been reported in the literature in individuals with GYS2-related conditions. Loss-of-function variants in GYS2 are known to be pathogenic (PMID: 9691087). For these reasons, this variant has been classified as Pathogenic.

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