ClinVar Miner

Submissions for variant NM_021957.4(GYS2):c.1229+1G>A

gnomAD frequency: 0.00001  dbSNP: rs764539267
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000704439 SCV000833388 likely pathogenic Glycogen storage disorder due to hepatic glycogen synthase deficiency 2017-11-09 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and 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 (rs764539267, ExAC 0.003%). This sequence change affects a donor splice site in intron 9 of the GYS2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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