ClinVar Miner

Submissions for variant NM_001278716.2(FBXL4):c.*3T>C

gnomAD frequency: 0.01773  dbSNP: rs115180578
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437510 SCV000520667 benign not specified 2016-02-11 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.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000500004 SCV000598534 benign Mitochondrial DNA depletion syndrome 13 2017-08-10 criteria provided, single submitter reference population The NM_012160.4:c.*3T>C () [GRCH38: NC_000006.12:g.98874275A>G] variant in FBXL4 gene is interpretated to be a Benign - Stand Alone based on ACMG guidelines (PMID: 25741868). This variant meets one or more of the following evidence codes reported in the ACMG-guideline. BA1:Minor allele frequency is too high for the Mitochondrial DNA depletion syndrome 13. BS2:Observation of the variant is in controls is inconsistent with penetrance of Mitochondrial DNA depletion syndrome 13. BP4:Computational evidence/predictors indicate no impact on the FBXL4 structure, function, or protein-protein interaction. Based on this evidence code ClinGen Pathogenicity Calculator (PMID:28081714) suggested that the variant is Benign - Stand Alone.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000500004 SCV001157474 benign Mitochondrial DNA depletion syndrome 13 2023-11-22 criteria provided, single submitter clinical testing

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