ClinVar Miner

Submissions for variant NM_021957.4(GYS2):c.941+1G>C

dbSNP: rs587776831
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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 RCV000017428 SCV000763892 pathogenic Glycogen storage disorder due to hepatic glycogen synthase deficiency 2022-05-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 16050). Disruption of this splice site has been observed in individual(s) with glycogen storage disease type 0 (PMID: 9691087). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 6 of the GYS2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in GYS2 are known to be pathogenic (PMID: 9691087).
OMIM RCV000017428 SCV000037700 pathogenic Glycogen storage disorder due to hepatic glycogen synthase deficiency 1998-08-01 no assertion criteria provided literature only

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