Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001869973 | SCV002125226 | uncertain significance | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | 2022-01-03 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 7 of the GYS1 gene. It does not directly change the encoded amino acid sequence of the GYS1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs199937247, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with GYS1-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |