ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.297del (p.Met99fs)

gnomAD frequency: 0.00001  dbSNP: rs754850404
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481377 SCV000573863 likely pathogenic not provided 2017-03-12 criteria provided, single submitter clinical testing The c.297delG variant in the FANCE gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.297delG variant causes a frameshift starting with codon Methionine 99, changes this amino acid to an Isoleucine residue, and creates a premature Stop codon at position 4 of the new reading frame, denoted p.Met99IlefsX4. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.297delG variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server. We interpret c.297delG as a likely pathogenic variant.
Baylor Genetics RCV003464038 SCV004199079 likely pathogenic Fanconi anemia complementation group E 2023-01-05 criteria provided, single submitter clinical testing

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