ClinVar Miner

Submissions for variant NM_001278716.2(FBXL4):c.737T>C (p.Ile246Thr)

gnomAD frequency: 0.00076  dbSNP: rs143154211
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000499583 SCV000598328 uncertain significance Mitochondrial DNA depletion syndrome 13 2017-08-10 criteria provided, single submitter reference population The NM_012160.4:c.737T>C (NP_036292.2:p.Ile246Thr) [GRCH38: NC_000006.12:g.98917495A>G] variant in FBXL4 gene is interpretated to be a Uncertain Significance - Conflicting Evidence based on ACMG guidelines (PMID: 25741868). This variant meets one or more of the following evidence codes reported in the ACMG-guideline. PM2:This variant is absent in key population databases. 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 Uncertain Significance - Conflicting Evidence.
Baylor Genetics RCV000499583 SCV001519807 uncertain significance Mitochondrial DNA depletion syndrome 13 2019-05-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV000676936 SCV002325238 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000676936 SCV004032691 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing FBXL4: BP4
GeneDx RCV000676936 SCV005078235 uncertain significance not provided 2024-03-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV000676936 SCV000802755 uncertain significance not provided 2016-02-29 no assertion criteria provided clinical testing

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