ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.1432T>G (p.Cys478Gly)

dbSNP: rs1199013619
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001038392 SCV001201859 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2022-07-26 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces cysteine, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 478 of the NBN protein (p.Cys478Gly). This variant has not been reported in the literature in individuals affected with NBN-related conditions. 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. ClinVar contains an entry for this variant (Variation ID: 837123).
Ambry Genetics RCV002391102 SCV002696202 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-09 criteria provided, single submitter clinical testing The p.C478G variant (also known as c.1432T>G), located in coding exon 11 of the NBN gene, results from a T to G substitution at nucleotide position 1432. The cysteine at codon 478 is replaced by glycine, an amino acid with highly dissimilar properties. This amino acid position is conserved. 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.

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