ClinVar Miner

Submissions for variant NM_006859.4(LIAS):c.328C>T (p.Arg110Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005157806 SCV005783051 pathogenic Lipoic acid synthetase deficiency 2024-09-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg110*) in the LIAS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LIAS are known to be pathogenic (PMID: 24334290, 27923773). This variant is present in population databases (rs764248088, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with LIAS-related conditions. For these reasons, this variant has been classified as Pathogenic.

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