ClinVar Miner

Submissions for variant NM_022725.4(FANCF):c.1082A>G (p.Lys361Arg)

dbSNP: rs2133796173
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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 RCV002038139 SCV002268132 uncertain significance Fanconi anemia 2023-07-07 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1484711). This variant has not been reported in the literature in individuals affected with FANCF-related conditions. This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 361 of the FANCF protein (p.Lys361Arg).

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