ClinVar Miner

Submissions for variant NM_182978.4(GNAL):c.540A>G (p.Pro180=)

gnomAD frequency: 0.00028  dbSNP: rs182262644
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000630728 SCV000751695 likely benign Dystonic disorder 2024-02-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492945 SCV002808940 likely benign Dystonia 25 2022-04-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945582 SCV004766370 likely benign GNAL-related disorder 2019-04-11 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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