ClinVar Miner

Submissions for variant NM_006859.4(LIAS):c.18G>A (p.Gly6=)

gnomAD frequency: 0.00001  dbSNP: rs774040503
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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 RCV001417408 SCV001619608 likely benign Lipoic acid synthetase deficiency 2024-09-23 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004998883 SCV005622479 likely benign not specified 2024-09-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938719 SCV004752911 likely benign LIAS-related disorder 2019-06-25 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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