ClinVar Miner

Submissions for variant NM_004130.4(GYG1):c.98G>A (p.Arg33Lys)

gnomAD frequency: 0.00128  dbSNP: rs146101365
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000652499 SCV000774369 likely benign Glycogen storage disease XV; Polyglucosan body myopathy type 2 2025-02-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001532010 SCV001747381 uncertain significance not provided 2021-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001532010 SCV001812219 likely benign not provided 2019-12-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004754519 SCV005352187 likely benign GYG1-related disorder 2024-08-26 no assertion criteria provided 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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