ClinVar Miner

Submissions for variant NM_003849.4(SUCLG1):c.298G>C (p.Val100Leu)

gnomAD frequency: 0.00006  dbSNP: rs140441011
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484798 SCV000565606 uncertain significance not provided 2017-03-16 criteria provided, single submitter clinical testing The V100L variant in the SUCLG1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The V100L variant was not observed at any significant frequency in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The V100L variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Valine are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function.
Baylor Genetics RCV001332336 SCV001524625 uncertain significance Mitochondrial DNA depletion syndrome 9 2020-05-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001332336 SCV001538008 uncertain significance Mitochondrial DNA depletion syndrome 9 2024-10-25 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 100 of the SUCLG1 protein (p.Val100Leu). This variant is present in population databases (rs140441011, 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: 418509). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SUCLG1 protein function. 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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