ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.1366C>A (p.Leu456Ile)

gnomAD frequency: 0.00001  dbSNP: rs780374375
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693019 SCV000820872 uncertain significance Fanconi anemia 2018-03-17 criteria provided, single submitter clinical testing This variant is present in population databases (rs780374375, ExAC 0.05%). 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 (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 and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with FANCD2-related disease. This sequence change replaces leucine with isoleucine at codon 456 of the FANCD2 protein (p.Leu456Ile). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and isoleucine.
Fulgent Genetics, Fulgent Genetics RCV002499239 SCV002781403 uncertain significance Fanconi anemia complementation group D2 2022-04-20 criteria provided, single submitter clinical testing

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