ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.1069C>T (p.Leu357Phe)

gnomAD frequency: 0.00016  dbSNP: rs185230199
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001761481 SCV002000937 uncertain significance not provided 2020-03-26 criteria provided, single submitter clinical testing 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
Labcorp Genetics (formerly Invitae), Labcorp RCV001868557 SCV002186320 uncertain significance Fanconi anemia complementation group E 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 357 of the FANCE protein (p.Leu357Phe). This variant is present in population databases (rs185230199, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with FANCE-related conditions. ClinVar contains an entry for this variant (Variation ID: 1312593). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The phenylalanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV001868557 SCV002788414 uncertain significance Fanconi anemia complementation group E 2024-05-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002539157 SCV003683452 uncertain significance Inborn genetic diseases 2022-04-25 criteria provided, single submitter clinical testing The c.1069C>T (p.L357F) alteration is located in exon 5 (coding exon 5) of the FANCE gene. This alteration results from a C to T substitution at nucleotide position 1069, causing the leucine (L) at amino acid position 357 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001868557 SCV005875647 likely benign Fanconi anemia complementation group E 2024-06-12 criteria provided, single submitter clinical testing

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