ClinVar Miner

Submissions for variant NM_022725.4(FANCF):c.617C>T (p.Ala206Val)

gnomAD frequency: 0.00007  dbSNP: rs756213451
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001304748 SCV001494042 uncertain significance Fanconi anemia 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 206 of the FANCF protein (p.Ala206Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs756213451, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with FANCF-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV002486183 SCV002789909 uncertain significance Fanconi anemia complementation group F 2022-05-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002543109 SCV003550881 uncertain significance Inborn genetic diseases 2021-10-05 criteria provided, single submitter clinical testing The c.617C>T (p.A206V) alteration is located in exon 1 (coding exon 1) of the FANCF gene. This alteration results from a C to T substitution at nucleotide position 617, causing the alanine (A) at amino acid position 206 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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