ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.1181G>A (p.Arg394Lys)

dbSNP: rs1810670587
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001221720 SCV001393780 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2019-06-28 criteria provided, single submitter clinical testing 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 lysine 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. This variant has not been reported in the literature in individuals with NBN-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with lysine at codon 394 of the NBN protein (p.Arg394Lys). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and lysine.

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