ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.1548G>A (p.Pro516=)

gnomAD frequency: 0.00001  dbSNP: rs1460204907
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001223470 SCV001395622 uncertain significance Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2022-08-10 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 951530). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. This variant has not been reported in the literature in individuals affected with GYS1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change affects codon 516 of the GYS1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the GYS1 protein. It affects a nucleotide within the consensus splice site.

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