ClinVar Miner

Submissions for variant NM_003849.4(SUCLG1):c.140G>A (p.Arg47Gln)

gnomAD frequency: 0.00005  dbSNP: rs199806912
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186194 SCV000239220 uncertain significance not provided 2013-02-07 criteria provided, single submitter clinical testing p.Arg47Gln (CGG>CAG): c.140 G>A in exon 2 of the SUCLG1 gene (NM_003849.3)A variant of unknown significance has been identified in the SUCLG1 gene. The R47Q missense substitution has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The amino acid change is non-conservative in that a positively charged Arginine residue is replaced by an uncharged Glutamine residue. This change occurs at a position in the SUCLG1 protein that is conserved in mammals. In silico analyses are not consistent in their predictions of whether or not R47Q is damaging to the SUCLG1 protein. Therefore, based on the currently available information, it is unclear whether R47Q is a disease-causing mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s).
Labcorp Genetics (formerly Invitae), Labcorp RCV001857585 SCV002294095 uncertain significance Mitochondrial DNA depletion syndrome 9 2022-07-04 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 47 of the SUCLG1 protein (p.Arg47Gln). This variant is present in population databases (rs199806912, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SUCLG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 203969). 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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