ClinVar Miner

Submissions for variant NM_001278716.2(FBXL4):c.468T>C (p.Ala156=)

gnomAD frequency: 0.00068  dbSNP: rs114916821
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000890791 SCV000518538 benign not provided 2019-06-14 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000500898 SCV000598283 benign Mitochondrial DNA depletion syndrome 13 2017-08-10 criteria provided, single submitter reference population The NM_012160.4:c.468T>C (NP_036292.2:p.Ala156=) [GRCH38: NC_000006.12:g.98926521A>G] 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.
Invitae RCV000890791 SCV001034564 benign not provided 2024-01-25 criteria provided, single submitter clinical testing

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