ClinVar Miner

Submissions for variant NM_022725.4(FANCF):c.452A>T (p.Tyr151Phe)

gnomAD frequency: 0.00017  dbSNP: rs952309844
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001294130 SCV001482946 uncertain significance Fanconi anemia complementation group F 2019-07-17 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001859242 SCV002163187 uncertain significance Fanconi anemia 2023-12-07 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 151 of the FANCF protein (p.Tyr151Phe). This variant is present in population databases (no rsID available, gnomAD 0.03%). 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: 998327). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Fulgent Genetics, Fulgent Genetics RCV001294130 SCV002775698 uncertain significance Fanconi anemia complementation group F 2022-05-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV003166632 SCV003877352 uncertain significance Inborn genetic diseases 2023-03-06 criteria provided, single submitter clinical testing The c.452A>T (p.Y151F) alteration is located in exon 1 (coding exon 1) of the FANCF gene. This alteration results from a A to T substitution at nucleotide position 452, causing the tyrosine (Y) at amino acid position 151 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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