ClinVar Miner

Submissions for variant NM_003849.4(SUCLG1):c.409A>G (p.Ile137Val)

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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 RCV002304664 SCV002593911 uncertain significance Mitochondrial DNA depletion syndrome 9 2022-08-13 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 137 of the SUCLG1 protein (p.Ile137Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SUCLG1-related conditions. 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. 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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