ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.2039G>T (p.Gly680Val)

dbSNP: rs1425101720
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001014161 SCV001174841 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-01 criteria provided, single submitter clinical testing The p.G680V variant (also known as c.2039G>T), located in coding exon 13 of the NBN gene, results from a G to T substitution at nucleotide position 2039. The glycine at codon 680 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is 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 RCV001238227 SCV001411026 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2023-07-12 criteria provided, single submitter clinical testing 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 sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 680 of the NBN protein (p.Gly680Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NBN-related conditions. ClinVar contains an entry for this variant (Variation ID: 820572). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive.
Genome-Nilou Lab RCV001238227 SCV002046077 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2021-11-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001238227 SCV001455017 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2020-03-10 no assertion criteria provided clinical testing

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