ClinVar Miner

Submissions for variant NM_020686.6(ABAT):c.1005G>A (p.Thr335=)

gnomAD frequency: 0.00001  dbSNP: rs557375445
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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 RCV001454705 SCV001658441 likely benign Gamma-aminobutyric acid transaminase deficiency 2024-12-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003930953 SCV004746726 likely benign ABAT-related disorder 2019-09-11 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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