ClinVar Miner

Submissions for variant NM_003850.3(SUCLA2):c.132A>C (p.Gln44His)

gnomAD frequency: 0.00004  dbSNP: rs146794237
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001891379 SCV002165108 uncertain significance Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 44 of the SUCLA2 protein (p.Gln44His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine. This variant is present in population databases (rs146794237, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with SUCLA2-related conditions. 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.
Baylor Genetics RCV001891379 SCV004183400 uncertain significance Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 2023-10-25 criteria provided, single submitter clinical testing

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