ClinVar Miner

Submissions for variant NM_003849.4(SUCLG1):c.590-6G>A

gnomAD frequency: 0.00008  dbSNP: rs200107730
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000380121 SCV000432142 uncertain significance Mitochondrial DNA depletion syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000285798 SCV000432143 uncertain significance Mitochondrial DNA depletion syndrome 9 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000603149 SCV000715039 likely benign not specified 2017-01-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000285798 SCV002466222 likely benign Mitochondrial DNA depletion syndrome 9 2023-12-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003950167 SCV004760964 likely benign SUCLG1-related disorder 2019-12-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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