ClinVar Miner

Submissions for variant NM_001278716.2(FBXL4):c.1703G>C (p.Gly568Ala) (rs398123060)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Klinikum rechts der Isar RCV000056329 SCV000680231 pathogenic Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 2017-11-16 criteria provided, single submitter clinical testing
OMIM RCV000056329 SCV000087498 pathogenic Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 2013-09-05 no assertion criteria provided literature only
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000056329 SCV000598175 likely pathogenic Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 2017-08-10 criteria provided, single submitter clinical testing The NM_012160.4:c.1703G>C (NP_036292.2:p.Gly568Ala) [GRCH38: NC_000006.12:g.98874441C>G] variant in FBXL4 gene is interpretated to be a Likely Pathogenic based on ACMG guidelines (PMID: 25741868). This variant has been reported in PMID:23993194 ; 25868664 ; 27743463 . 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. PM3:Detected in trans with a pathogenic variant for Mitochondrial DNA depletion syndrome 13 which is a recessive disorder. PP2:This is a missense variant in FBXL4 with a low rate of benign and high rate of pathogenic missense variations. PP3:Computational evidence/predictors indicate the variant has deleterious effect on FBXL4 structure, function, or protein-protein interaction. PP4:Patient’s phenotype or family history is highly specific for FBXL4. PP5:Reputable source(s) suggest that the variant is pathogenic. Based on this evidence code ClinGen Pathogenicity Calculator (PMID:28081714) suggested that the variant is Likely Pathogenic.

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