ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.1417C>G (p.Gln473Glu)

dbSNP: rs755805461
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988084 SCV001137662 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2019-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001011437 SCV001171758 uncertain significance Hereditary cancer-predisposing syndrome 2019-08-23 criteria provided, single submitter clinical testing The p.Q473E variant (also known as c.1417C>G), located in coding exon 11 of the NBN gene, results from a C to G substitution at nucleotide position 1417. The glutamine at codon 473 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000988084 SCV001223518 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2022-08-29 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 802419). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with NBN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 473 of the NBN protein (p.Gln473Glu).
Genome-Nilou Lab RCV000988084 SCV002044629 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2021-11-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV000988084 SCV002078573 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2020-09-16 no assertion criteria provided clinical testing

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