ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.311C>G (p.Ala104Gly)

gnomAD frequency: 0.00007  dbSNP: rs773580818
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000474425 SCV000547720 uncertain significance Fanconi anemia complementation group E 2023-12-29 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 104 of the FANCE protein (p.Ala104Gly). This variant is present in population databases (rs773580818, 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: 408153). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt FANCE protein function with a positive predictive value of 80%. 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 RCV000474425 SCV000895761 uncertain significance Fanconi anemia complementation group E 2021-10-28 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255392 SCV002527959 uncertain significance Fanconi anemia 2021-04-14 criteria provided, single submitter curation
GeneDx RCV002280117 SCV002568467 uncertain significance not provided 2022-02-15 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
Ambry Genetics RCV004022679 SCV004869515 uncertain significance Inborn genetic diseases 2021-08-02 criteria provided, single submitter clinical testing The c.311C>G (p.A104G) alteration is located in exon 2 (coding exon 2) of the FANCE gene. This alteration results from a C to G substitution at nucleotide position 311, causing the alanine (A) at amino acid position 104 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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