ClinVar Miner

Submissions for variant NM_006859.4(LIAS):c.706C>T (p.His236Tyr)

gnomAD frequency: 0.00001  dbSNP: rs1426782379
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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 RCV002004724 SCV002233511 uncertain significance Lipoic acid synthetase deficiency 2022-08-16 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1449950). This variant has not been reported in the literature in individuals affected with LIAS-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 236 of the LIAS protein (p.His236Tyr).

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