ClinVar Miner

Submissions for variant NM_022725.4(FANCF):c.632_634dup (p.Gln211dup)

dbSNP: rs748880303
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001817941 SCV002067450 uncertain significance not specified 2020-03-13 criteria provided, single submitter clinical testing DNA sequence analysis of the FANCF gene demonstrated a 3 base pair duplication in exon 1, c.632_634dup. This in-frame deletion is predicted to result in the duplication of 1 amino acid residue, p.Gln211dup. This sequence change has been described in the gnomAD database in 2 individuals (dbSNP rs748880303). The p.Gln211dup change is located in a domain of the FANCF protein that is not known to be functional. This sequence change has not been previously reported in patients with FANCF-related disorders; however, frameshift deletions in FANCF have been reported in patients with Fanconi anemia (PMIDs: 27714961, 31288759). The functional significance of this sequence change is not known at present and its contribution to a disease phenotype cannot definitively be determined.

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