ClinVar Miner

Submissions for variant NM_001278716.2(FBXL4):c.1772A>C (p.Asp591Ala) (rs747618415)

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Total submissions: 2
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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 RCV000503844 SCV000598519 uncertain significance Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 2017-08-10 criteria provided, single submitter reference population The NM_012160.4:c.1772A>C (NP_036292.2:p.Asp591Ala) [GRCH38: NC_000006.12:g.98874372T>G] variant in FBXL4 gene is interpretated to be a Uncertain Significance - Insufficient 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. PM5:This variant causes novel missense change at an amino acid residue where a different pathogenic missense change has been seen before. PP3:Computational evidence/predictors indicate the variant has deleterious effect on FBXL4 structure, function, or protein-protein interaction. Based on this evidence code ClinGen Pathogenicity Calculator (PMID:28081714) suggested that the variant is Uncertain Significance - Insufficient Evidence.
Institute of Human Genetics, Klinikum rechts der Isar RCV000503844 SCV000680230 likely pathogenic Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 2017-11-16 no assertion criteria provided clinical testing

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