ClinVar Miner

Submissions for variant NM_006859.4(LIAS):c.313G>A (p.Val105Ile)

dbSNP: rs775744955
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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 RCV001346619 SCV001540841 uncertain significance Lipoic acid synthetase deficiency 2024-11-11 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 105 of the LIAS protein (p.Val105Ile). This variant is present in population databases (rs775744955, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with LIAS-related conditions. ClinVar contains an entry for this variant (Variation ID: 1042630). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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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