ClinVar Miner

Submissions for variant NM_022725.4(FANCF):c.230_252del (p.Val77fs)

dbSNP: rs730880277
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000472440 SCV000547717 pathogenic Fanconi anemia 2023-07-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val77Glyfs*6) in the FANCF gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 298 amino acid(s) of the FANCF protein. This variant is present in population databases (rs730880277, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with Fanconi-anemia (PMID: 10615118). This variant is also known as 23 bp nt. 230-252. ClinVar contains an entry for this variant (Variation ID: 6340). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this premature translational stop signal affects FANCF function (PMID: 10615118). This variant disrupts a region of the FANCF protein in which other variant(s) (Leu162Aspfs*103) have been determined to be pathogenic (PMID: 10615118, 26033879, 27714961, 28102861). 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.
Fulgent Genetics, Fulgent Genetics RCV000006712 SCV002811591 pathogenic Fanconi anemia complementation group F 2024-06-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV000006712 SCV004199093 pathogenic Fanconi anemia complementation group F 2024-02-06 criteria provided, single submitter clinical testing
OMIM RCV000006712 SCV000026903 pathogenic Fanconi anemia complementation group F 2000-01-01 no assertion criteria provided literature only

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