ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.1512C>T (p.Val504=)

gnomAD frequency: 0.00018  dbSNP: rs201028159
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001440449 SCV001643358 likely benign Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2023-06-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001440449 SCV003799328 likely benign Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2022-03-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920947 SCV004733057 likely benign GYS1-related condition 2024-01-23 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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