ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.686T>G (p.Leu229Arg)

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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 RCV003635656 SCV004475788 uncertain significance Fanconi anemia 2023-02-06 criteria provided, single submitter clinical testing 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 229 of the FANCC protein (p.Leu229Arg). This variant is present in population databases (rs369770340, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with FANCC-related conditions.

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