ClinVar Miner

Submissions for variant NM_001278716.2(FBXL4):c.747T>A (p.Asp249Glu)

dbSNP: rs138206466
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Total submissions: 3
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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 RCV000503165 SCV000598330 uncertain significance Mitochondrial DNA depletion syndrome 13 2017-08-10 criteria provided, single submitter reference population The NM_012160.4:c.747T>A (NP_036292.2:p.Asp249Glu) [GRCH38: NC_000006.12:g.98917485A>T] 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 RCV000503165 SCV001527593 uncertain significance Mitochondrial DNA depletion syndrome 13 2018-12-01 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 RCV001424242 SCV001626836 likely benign not provided 2023-10-11 criteria provided, single submitter clinical testing

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