ClinVar Miner

Submissions for variant NM_001278716.2(FBXL4):c.1252G>C (p.Ala418Pro)

dbSNP: rs542852839
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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 Munich, Klinikum Rechts Der Isar, TU München RCV001254155 SCV001430105 likely pathogenic Mitochondrial DNA depletion syndrome 13 2019-10-04 criteria provided, single submitter clinical testing
GeneDx RCV003236884 SCV003935692 uncertain significance not provided 2023-06-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987816 SCV004803280 uncertain significance not specified 2024-01-12 criteria provided, single submitter clinical testing Variant summary: FBXL4 c.1252G>C (p.Ala418Pro) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251140 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1252G>C in individuals affected with Leigh Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 976769. Likely pathogenic, n=1; VUS, n=1). Based on the evidence outlined above, the variant was classified as uncertain significance.

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