Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000116203 | SCV000923498 | likely pathogenic | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000116203 | SCV003443405 | pathogenic | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | 2023-03-08 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs587777375, gnomAD 0.03%). This sequence change creates a premature translational stop signal (p.Asp56Argfs*108) in the GYS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GYS1 are known to be pathogenic (PMID: 17928598, 19699667). This premature translational stop signal has been observed in individual(s) with clinical features of glycogen synthase deficiency (PMID: 19699667). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 128236). |
OMIM | RCV000116203 | SCV000150112 | pathogenic | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | 2009-12-01 | no assertion criteria provided | literature only |