ClinVar Miner

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

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552393 SCV000626461 uncertain significance Fanconi anemia 2019-10-14 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). ClinVar contains an entry for this variant (Variation ID: 456344). 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, 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.
Fulgent Genetics,Fulgent Genetics RCV000764453 SCV000895515 uncertain significance Fanconi anemia, complementation group D2 2018-10-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092962 SCV001249719 uncertain significance not provided 2020-01-01 criteria provided, single submitter clinical testing

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