ClinVar Miner

Submissions for variant NM_021922.2(FANCE):c.598C>T (p.Arg200Cys) (rs763151358)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Predisposition to Colorectal Cancer Group,Institut d’Investigacions Biomediques August Pi i Sunyer RCV000416904 SCV000262604 likely pathogenic Carcinoma of colon 2015-11-01 criteria provided, single submitter clinical testing Variant detected by whole exome sequencing in a family presenting aggregation mainly for colorectal cancer but also for breast cancer
Invitae RCV000649006 SCV000770827 uncertain significance Fanconi anemia, complementation group E 2019-12-18 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 200 of the FANCE protein (p.Arg200Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs763151358, ExAC 0.04%). This variant was reported in a family affected with colorectal and breast cancer (PMID: 27165003). ClinVar contains an entry for this variant (Variation ID: 221623). 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, 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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