ClinVar Miner

Submissions for variant NM_022725.4(FANCF):c.943dup (p.Cys315fs)

dbSNP: rs1590540654
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000824594 SCV000965497 uncertain significance Fanconi anemia 2018-08-18 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 with FANCF-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the FANCF gene (p.Cys315Leufs*10). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 60 amino acids of the FANCF protein.
Baylor Genetics RCV003461291 SCV004199105 likely pathogenic Fanconi anemia complementation group F 2023-02-19 criteria provided, single submitter clinical testing

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