ClinVar Miner

Submissions for variant NM_002361.4(MAG):c.409A>G (p.Ile137Val)

gnomAD frequency: 0.01072  dbSNP: rs113328438
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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 RCV000652704 SCV000774575 benign Hereditary spastic paraplegia 75 2025-01-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004757269 SCV005345115 benign MAG-related disorder 2024-04-02 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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