ClinVar Miner

Submissions for variant NM_022725.4(FANCF):c.407_415dup (p.Arg138_Arg139insLeuAlaArg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003524059 SCV004364252 uncertain significance Fanconi anemia 2023-03-19 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with FANCF-related conditions. This variant is present in population databases (rs747620478, gnomAD 0.01%), including at least one homozygous and/or hemizygous individual. This variant, c.407_415dup, results in the insertion of 3 amino acid(s) of the FANCF protein (p.Leu136_Arg138dup), but otherwise preserves the integrity of the reading frame.

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