Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001059971 | SCV001224627 | uncertain significance | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | 2022-03-23 | criteria provided, single submitter | clinical testing | This sequence change affects codon 45 of the GYS1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the GYS1 protein. This variant is present in population databases (rs558436703, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with GYS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 854840). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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. |