ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.3G>T (p.Met1Ile)

dbSNP: rs758161697
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001343401 SCV001537379 uncertain significance Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2021-08-24 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the GYS1 mRNA. The next in-frame methionine is located at codon 9. This variant is present in population databases (rs758161697, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with GYS1-related conditions. 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.

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