ClinVar Miner

Submissions for variant NM_022725.4(FANCF):c.325T>C (p.Tyr109His)

dbSNP: rs2133798077
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001975450 SCV002253834 uncertain significance Fanconi anemia 2022-05-12 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 109 of the FANCF protein (p.Tyr109His). This variant is not present in population databases (gnomAD no frequency). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.

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