ClinVar Miner

Submissions for variant NM_006859.4(LIAS):c.70C>G (p.Pro24Ala)

dbSNP: rs768692068
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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 RCV001963443 SCV002249250 uncertain significance Lipoic acid synthetase deficiency 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 24 of the LIAS protein (p.Pro24Ala). The proline residue is weakly conserved and there is a small physicochemical difference between proline and alanine. This variant is present in population databases (rs768692068, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with LIAS-related conditions. 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 tolerated. 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.

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