ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.129A>G (p.Ala43=)

gnomAD frequency: 0.00001  dbSNP: rs760568854
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001410461 SCV001612510 likely benign Glycogen storage disease type III 2024-01-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003946078 SCV004763706 likely benign AGL-related disorder 2023-06-09 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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