ClinVar Miner

Submissions for variant NM_022725.4(FANCF):c.970A>G (p.Lys324Glu)

gnomAD frequency: 0.00008  dbSNP: rs200416138
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001104344 SCV001261201 benign Fanconi anemia complementation group F 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001306831 SCV001496213 uncertain significance Fanconi anemia 2024-10-22 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 324 of the FANCF protein (p.Lys324Glu). This variant is present in population databases (rs200416138, gnomAD 0.01%). 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: 878061). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt FANCF protein function with a negative predictive value of 80%. 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 RCV001104344 SCV005675927 uncertain significance Fanconi anemia complementation group F 2024-02-19 criteria provided, single submitter clinical testing

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