ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.203A>G (p.Lys68Arg)

dbSNP: rs2147447567
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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 RCV002035790 SCV002292407 uncertain significance Fanconi anemia 2021-09-21 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 68 of the FANCB protein (p.Lys68Arg). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and arginine. 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with FANCB-related conditions. This variant is not present in population databases (ExAC no frequency).

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