ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.350A>C (p.Lys117Thr) (rs1057515811)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000303794 SCV000481947 uncertain significance Fanconi Anemia, X-Linked 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000339897 SCV000481948 uncertain significance VACTERL association with hydrocephalus 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001206366 SCV001377672 uncertain significance Fanconi anemia 2019-07-31 criteria provided, single submitter clinical testing This sequence change replaces lysine with threonine at codon 117 of the FANCB protein (p.Lys117Thr). The lysine residue is weakly conserved and there is a moderate physicochemical difference between lysine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FANCB-related conditions. ClinVar contains an entry for this variant (Variation ID: 368034). 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 threonine 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 and their clinical significance is uncertain. 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.

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