ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.3421A>G (p.Ile1141Val)

gnomAD frequency: 0.00002  dbSNP: rs752815037
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001997430 SCV002233744 uncertain significance Fanconi anemia 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 1141 of the FANCD2 protein (p.Ile1141Val). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs752815037, ExAC 0.009%). This variant has not been reported in the literature in individuals affected with FANCD2-related conditions. 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. 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 RCV002484778 SCV002788046 uncertain significance Fanconi anemia complementation group D2 2022-03-28 criteria provided, single submitter clinical testing

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