ClinVar Miner

Submissions for variant NM_003849.4(SUCLG1):c.272G>A (p.Gly91Glu)

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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 RCV002928021 SCV003264109 uncertain significance Mitochondrial DNA depletion syndrome 9 2022-05-30 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 91 of the SUCLG1 protein (p.Gly91Glu). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals affected with SUCLG1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%).

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