ClinVar Miner

Submissions for variant NM_006859.4(LIAS):c.645T>A (p.Asp215Glu) (rs869312808)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000210212 SCV001562004 uncertain significance Pyruvate dehydrogenase lipoic acid synthetase deficiency 2020-08-27 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glutamic acid at codon 215 of the LIAS protein (p.Asp215Glu). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with nonketotic hyperglycinemia (PMID: 24334290). ClinVar contains an entry for this variant (Variation ID: 224602). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
OMIM RCV000210212 SCV000266246 pathogenic Pyruvate dehydrogenase lipoic acid synthetase deficiency 2018-03-20 no assertion criteria provided literature only

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