ClinVar Miner

Submissions for variant NM_006859.4(LIAS):c.163G>A (p.Asp55Asn)

dbSNP: rs1744463777
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001308506 SCV001497961 uncertain significance Lipoic acid synthetase deficiency 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 55 of the LIAS protein (p.Asp55Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). 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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