ClinVar Miner

Submissions for variant NM_003849.4(SUCLG1):c.692T>C (p.Phe231Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002979723 SCV003297016 uncertain significance Mitochondrial DNA depletion syndrome 9 2021-12-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SUCLG1-related conditions. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant is present in population databases (rs778016037, gnomAD 0.005%). This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 231 of the SUCLG1 protein (p.Phe231Ser).
GeneDx RCV003229927 SCV003927689 uncertain significance not provided 2022-11-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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