ClinVar Miner

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

dbSNP: rs763929651
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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 RCV001206520 SCV001377831 pathogenic Glycogen storage disorder 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.
3billion RCV001206520 SCV003841995 pathogenic Glycogen storage disorder due to hepatic glycogen synthase deficiency 2023-02-23 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: <0.001%). This variant was predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with GYS2 related disorder (ClinVar ID: VCV000937499). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.

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