ClinVar Miner

Submissions for variant NM_001278716.2(FBXL4):c.913C>G (p.Gln305Glu)

dbSNP: rs571805954
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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 RCV000500686 SCV000598357 uncertain significance Mitochondrial DNA depletion syndrome 13 2017-08-10 criteria provided, single submitter reference population The NM_012160.4:c.913C>G (NP_036292.2:p.Gln305Glu) [GRCH38: NC_000006.12:g.98905616G>C] 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. Based on this evidence code ClinGen Pathogenicity Calculator (PMID:28081714) suggested that the variant is Uncertain Significance - Insufficient Evidence.
Neuberg Centre For Genomic Medicine, NCGM RCV000500686 SCV005061017 uncertain significance Mitochondrial DNA depletion syndrome 13 criteria provided, single submitter clinical testing The observed missense c.913C>G (p.Gln305Glu) variant in FBXL4 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Gln305Glu variant is reported with allele frequency of 0.002% in gnomAD Exomes. This variant has been submitted to the ClinVar database as Uncertain Significance. The amino acid change p.Gln305Glu in FBXL4 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Gln at position 305 is changed to a Glu changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS).

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