ClinVar Miner

Submissions for variant NM_003850.3(SUCLA2):c.1219C>T (p.Arg407Trp)

gnomAD frequency: 0.00001  dbSNP: rs1233249991
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pathology and Clinical Laboratory Medicine, King Fahad Medical City RCV001824207 SCV002073803 likely pathogenic Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003394279 SCV004121169 pathogenic SUCLA2-related disorder 2022-09-19 criteria provided, single submitter clinical testing The SUCLA2 c.1219C>T variant is predicted to result in the amino acid substitution p.Arg407Trp. This variant has been reported in the homozygous state in individuals with Succinate-CoA ligase deficiency (Carrozzo et al. 2016. PubMed ID: 26475597; Garone et al. 2016. PubMed ID: 27651038; Martikainen et al. 2016. PubMed ID: 27111573; Gut et al. 2020. PubMed ID: 33230181; Alkhater et al. 2020. PubMed ID: 33231368). This variant is reported in 0.0033% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/13-48523627-G-A). This variant is interpreted as pathogenic.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001824207 SCV004804694 uncertain significance Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 2024-03-17 criteria provided, single submitter research

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