ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.400C>G (p.Leu134Val)

gnomAD frequency: 0.00001  dbSNP: rs768553208
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001819716 SCV002069002 uncertain significance not specified 2018-05-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001860562 SCV002191699 uncertain significance Fanconi anemia 2022-05-11 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 134 of the FANCI protein (p.Leu134Val). This variant is present in population databases (rs768553208, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with FANCI-related conditions. ClinVar contains an entry for this variant (Variation ID: 813642). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center RCV001252858 SCV001164001 uncertain significance Microcephaly no assertion criteria provided research

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