ClinVar Miner

Submissions for variant NM_006859.4(LIAS):c.376G>A (p.Ala126Thr)

gnomAD frequency: 0.00003  dbSNP: rs74528014
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712218 SCV000842656 uncertain significance not provided 2018-03-29 criteria provided, single submitter clinical testing
Invitae RCV001222759 SCV001394875 uncertain significance Lipoic acid synthetase deficiency 2022-08-15 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 586125). This variant has not been reported in the literature in individuals affected with LIAS-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 126 of the LIAS protein (p.Ala126Thr).

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