ClinVar Miner

Submissions for variant NM_022725.4(FANCF):c.604del (p.Phe201_Leu202insTer)

dbSNP: rs1479457172
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000994586 SCV001148210 likely pathogenic not provided 2018-11-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV001194788 SCV004199092 pathogenic Fanconi anemia complementation group F 2023-10-16 criteria provided, single submitter clinical testing
Invitae RCV003769334 SCV004680586 pathogenic Fanconi anemia 2023-09-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu202*) in the FANCF gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 173 amino acid(s) of the FANCF protein. This variant is present in population databases (no rsID available, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with malignant pleural mesothelioma (PMID: 28687356). ClinVar contains an entry for this variant (Variation ID: 806634). This variant disrupts a region of the FANCF protein in which other variant(s) (p.Gly233Glufs*32) 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.
Leiden Open Variation Database RCV001194788 SCV001364577 pathogenic Fanconi anemia complementation group F 2011-02-07 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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