ClinVar Miner

Submissions for variant NM_003849.4(SUCLG1):c.502A>G (p.Ile168Val)

gnomAD frequency: 0.00001  dbSNP: rs763324017
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186191 SCV000239217 likely benign not specified 2012-08-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001852421 SCV002170242 uncertain significance Mitochondrial DNA depletion syndrome 9 2022-03-22 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 168 of the SUCLG1 protein (p.Ile168Val). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 203966). This variant has not been reported in the literature in individuals affected with SUCLG1-related conditions. This variant is present in population databases (rs763324017, gnomAD 0.004%).

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