ClinVar Miner

Submissions for variant NM_003849.4(SUCLG1):c.788A>G (p.Glu263Gly)

gnomAD frequency: 0.00001  dbSNP: rs1344182662
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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 RCV001346473 SCV001540681 uncertain significance Mitochondrial DNA depletion syndrome 9 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 263 of the SUCLG1 protein (p.Glu263Gly). This variant is present in population databases (no rsID available, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of mitochondrial DNA depletion syndrome (PMID: 26827111, 27896121). ClinVar contains an entry for this variant (Variation ID: 1042506). 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 disrupts the p.Glu263 amino acid residue in SUCLG1. Other variant(s) that disrupt this residue have been observed in individuals with SUCLG1-related conditions (PMID: 26475597), which suggests that this may be a clinically significant amino acid residue. 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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