ClinVar Miner

Submissions for variant NM_033084.5(FANCD2):c.310A>G (p.Ile104Val) (rs774299094)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473368 SCV000547219 uncertain significance Fanconi anemia 2016-11-22 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 104 of the FANCD2 protein (p.Ile104Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. The frequency data for this variant (rs774299094) in the population databases is unreliable, as metrics indicate poor quality at this position in the ExAC database. This variant has not been reported in the literature in an individual with a FANCD2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: (SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but 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 RCV000764452 SCV000895514 uncertain significance Fanconi anemia, complementation group D2 2018-10-31 criteria provided, single submitter clinical testing

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