ClinVar Miner

Submissions for variant NM_003850.3(SUCLA2):c.370T>C (p.Ser124Pro)

dbSNP: rs2137743400
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002052051 SCV002318455 uncertain significance Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 2022-03-22 criteria provided, single submitter clinical testing Same or different nucleotide change resulting in same amino acid change has been previously reported to be associated with SUCLA2 related disorder (PMID:32404165). In silico tool predictions suggest damaging effect of the variant on gene or gene product(REVEL: 0.907>=0.6). A missense variant is a common mechanism associated with Mitochondrial DNA depletion syndrome 5. It is not observed in the gnomAD v2.1.1 dataset. Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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