ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.1880G>C (p.Arg627Pro) (rs777379515)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000388169 SCV000386751 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000388169 SCV000547801 uncertain significance Fanconi anemia 2016-04-04 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 627 of the FANCM protein (p.Arg627Pro). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and proline. This variant is present in population databases (rs777379515, ExAC <0.01%). This variant has been reported in the literature in an individual affected with breast cancer (PMID: 26689913). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. It has been reported in both the population and one affected individual, but the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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