ClinVar Miner

Submissions for variant NM_021957.4(GYS2):c.122-8_141del (rs746120293)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000690396 SCV000818080 pathogenic Glycogen storage disease due to hepatic glycogen synthase deficiency 2017-12-07 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing part of exon 2 of the GYS2 gene, including the intron-exon boundary, and insertion of 6 nucleotides at the same position (c.122-8_186delinsATCAGA). This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with GYS2-related disease. 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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