ClinVar Miner

Submissions for variant NM_033084.5(FANCD2):c.1348A>G (p.Ile450Val) (rs145129959)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552393 SCV000626461 uncertain significance Fanconi anemia 2017-12-08 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 450 of the FANCD2 protein (p.Ile450Val). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs145129959, ExAC 0.1%). This variant has been reported in an individual affected with breast cancer (PMID: 28202063). 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, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function, and is found in the population at an appreciable frequency. This variant is not anticipated to cause disease; however, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics,Fulgent Genetics RCV000764453 SCV000895515 uncertain significance Fanconi anemia, complementation group D2 2018-10-31 criteria provided, single submitter clinical testing

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