ClinVar Miner

Submissions for variant NM_002437.5(MPV17):c.275A>G (p.Asp92Gly)

dbSNP: rs1057524366
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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 RCV000625514 SCV000746010 likely pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 2017-12-01 criteria provided, single submitter clinical testing The NM_012160.4:c.419T>C (NP_036292.2:p.Val140Ala) [GRCH38: NC_000006.12:g.98926570A>G] variant in FBXL4 gene is interpretated to be a Likely Pathogenic 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. 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. Based on this evidence code ClinGen Pathogenicity Calculator (PMID:28081714) suggested that the variant is Likely Pathogenic.
SIB Swiss Institute of Bioinformatics RCV000625514 SCV000998875 likely pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 2019-08-13 criteria provided, single submitter curation This variant is interpreted as a Likely pathogenic for Mitochondrial DNA depletion syndrome 6, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PP3, PM3, PM1.

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