ClinVar Miner

Submissions for variant NM_021957.4(GYS2):c.1230-1G>A (rs766733439)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000454295 SCV000538037 likely pathogenic Glycogen storage disease due to hepatic glycogen synthase deficiency 2015-07-24 criteria provided, single submitter clinical testing This variant is predicted to affect the splice-acceptor site in intron 9 of the GYS2 gene. The frequency of this variant is very low in the ExAC database and is absent in both the 1000 Genomes and Exome Sequencing Project databases. In addition, splice-site computational algorithms have predicted this variant to abrogate splicing. Loss-of-function mutations are a known mechanism of disease for this disorder; therefore, we have provisionally classified this variant as Likely Pathogenic. We have confirmed this sequence change in our laboratory using Sanger sequencing. However, splicing studies are necessary to confirm this interpretation.

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