ClinVar Miner

Submissions for variant NM_003850.3(SUCLA2):c.802+3A>G

dbSNP: rs2137715478
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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 RCV001958025 SCV002210730 uncertain significance Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 2022-06-05 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the SUCLA2 gene. It does not directly change the encoded amino acid sequence of the SUCLA2 protein. It affects a nucleotide within the consensus 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1439093). This variant has not been reported in the literature in individuals affected with SUCLA2-related conditions. This variant is not present in population databases (gnomAD no frequency).

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