ClinVar Miner

Submissions for variant NM_006859.4(LIAS):c.331T>A (p.Cys111Ser) (rs747124026)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000650016 SCV000771853 uncertain significance Pyruvate dehydrogenase lipoic acid synthetase deficiency 2020-05-04 criteria provided, single submitter clinical testing This sequence change replaces cysteine with serine at codon 111 of the LIAS protein (p.Cys111Ser). The cysteine residue is highly conserved and there is a moderate physicochemical difference between cysteine and serine. This variant is present in population databases (rs747124026, ExAC 0.01%). This variant has not been reported in the literature in individuals with LIAS-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000730078 SCV000857789 uncertain significance not provided 2017-11-02 criteria provided, single submitter clinical testing

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