ClinVar Miner

Submissions for variant NM_001278716.2(FBXL4):c.1317G>A (p.Glu439=)

dbSNP: rs1554218789
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Total submissions: 1
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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 RCV000504527 SCV000598199 pathogenic Mitochondrial DNA depletion syndrome 13 2017-08-10 criteria provided, single submitter clinical testing The NM_012160.4:c.1317G>A (NP_036292.2:p.Glu439=) [GRCH38: NC_000006.12:g.98899268C>T] variant in FBXL4 gene is interpretated to be a Pathogenic based on ACMG guidelines (PMID: 25741868). This variant meets one or more of the following evidence codes reported in the ACMG-guideline. PVS1:This variant is a predcted null variant in FBXL4 where loss of function is a known mechanism of disease. PM2:This variant is absent in key population databases. 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 Pathogenic.

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