ClinVar Miner

Submissions for variant NM_006859.4(LIAS):c.341T>C (p.Ile114Thr)

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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 RCV003002749 SCV003298391 uncertain significance Lipoic acid synthetase deficiency 2022-08-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with LIAS-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 114 of the LIAS protein (p.Ile114Thr).

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