ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.235T>C (p.Cys79Arg) (rs879254329)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000235722 SCV000294251 likely pathogenic Fanconi anemia 2016-08-24 criteria provided, single submitter clinical testing This sequence change replaces cysteine with arginine at codon 79 of the FANCB protein (p.Cys79Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a FANCB-related disease. However, this variant has been shown to arise de novo in an individual affected with Fanconi anemia (Invitae database). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this is a novel missense change that has been observed in an individual with Fanconi anemia. However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.

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