ClinVar Miner

Submissions for variant NM_022725.4(FANCF):c.388dup (p.Gln130fs)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003394789 SCV004129946 likely pathogenic not provided 2022-12-01 criteria provided, single submitter clinical testing FANCF: PVS1:Strong, PM2
Baylor Genetics RCV003459861 SCV004199108 likely pathogenic Fanconi anemia complementation group F 2022-12-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003636016 SCV004377089 pathogenic Fanconi anemia 2024-01-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln130Profs*23) in the FANCF gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 245 amino acid(s) of the FANCF protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FANCF-related conditions. ClinVar contains an entry for this variant (Variation ID: 2641690). This variant disrupts a region of the FANCF protein in which other variant(s) (p.Gly231Glufs*7) have been determined to be pathogenic (PMID: 11063725, 12649160, 27714961). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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