ClinVar Miner

Submissions for variant NM_003850.3(SUCLA2):c.28C>T (p.Leu10=)

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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 RCV002800398 SCV003020801 uncertain significance Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 2022-07-27 criteria provided, single submitter clinical testing This sequence change affects codon 10 of the SUCLA2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SUCLA2 protein. This variant is present in population databases (rs9567973, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with SUCLA2-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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