ClinVar Miner

Submissions for variant NC_000019.9:g.(?_49485502)_(49486104_?)del

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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 RCV001387103 SCV001587617 pathogenic Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2020-07-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GYS1 are known to be pathogenic (PMID: 17928598, 19699667). This variant has not been reported in the literature in individuals with GYS1-related conditions. This variant is an out-of-frame deletion of the genomic region encompassing exon(s) 6-7 of the GYS1 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product.

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