ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.199A>G (p.Ile67Val) (rs761346761)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000766077 SCV000897549 uncertain significance Fanconi anemia, complementation group B; VACTERL association with hydrocephaly, X-linked 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000528416 SCV000626273 uncertain significance Fanconi anemia 2017-01-13 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 67 of the FANCB protein (p.Ile67Val). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs761346761, ExAC 0.004%) but has not been reported in the literature in individuals with a FANCB-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 rare 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.

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