ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.910A>G (p.Ile304Val)

gnomAD frequency: 0.00001  dbSNP: rs754238911
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001937584 SCV002133253 uncertain significance Fanconi anemia 2021-07-28 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with FANCB-related conditions. This variant is present in population databases (rs754238911, ExAC 0.002%). This sequence change replaces isoleucine with valine at codon 304 of the FANCB protein (p.Ile304Val). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and valine.
Fulgent Genetics, Fulgent Genetics RCV002503423 SCV002806897 uncertain significance Fanconi anemia complementation group B; VACTERL association, X-linked, with or without hydrocephalus 2022-01-24 criteria provided, single submitter clinical testing

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