ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.266G>A (p.Arg89Gln) (rs747315554)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000215544 SCV000277769 likely benign Hereditary cancer-predisposing syndrome 2018-01-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification,In silico models in agreement (benign)
Color RCV000215544 SCV000903176 likely benign Hereditary cancer-predisposing syndrome 2017-06-06 criteria provided, single submitter clinical testing
Counsyl RCV000204158 SCV000789454 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2017-02-01 criteria provided, single submitter clinical testing
Invitae RCV000204158 SCV000262164 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2018-11-14 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 89 of the NBN protein (p.Arg89Gln). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs747315554, ExAC 0.001%) but has not been reported in the literature in individuals with an NBN-related disease. ClinVar contains an entry for this variant (Variation ID: 221045). 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 glutamine 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.
Mendelics RCV000204158 SCV000838318 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2018-07-02 criteria provided, single submitter clinical testing

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