ClinVar Miner

Submissions for variant NM_001278716.2(FBXL4):c.105T>A (p.His35Gln) (rs34316889)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000248383 SCV000311869 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000248383 SCV000517825 benign not specified 2016-01-07 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 RCV000500252 SCV000598234 benign Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 2017-08-10 criteria provided, single submitter reference population The NM_012160.4:c.105T>A (NP_036292.2:p.His35Gln) [GRCH38: NC_000006.12:g.98926884A>T] variant in FBXL4 gene is interpretated to be a Benign based on ACMG guidelines (PMID: 25741868). This variant meets one or more of the following evidence codes reported in the ACMG-guideline. BS1:The minor allele frequency of this allele is high for 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.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676938 SCV000802757 benign not provided 2017-12-29 no assertion criteria provided clinical testing

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