ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.1805C>T (p.Thr602Ile)

dbSNP: rs1563524801
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001013242 SCV001173802 uncertain significance Hereditary cancer-predisposing syndrome 2022-07-27 criteria provided, single submitter clinical testing The p.T602I variant (also known as c.1805C>T), located in coding exon 11 of the NBN gene, results from a C to T substitution at nucleotide position 1805. The threonine at codon 602 is replaced by isoleucine, an amino acid with 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001314073 SCV001504588 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2023-10-31 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 602 of the NBN protein (p.Thr602Ile). 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: 820109). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Genome-Nilou Lab RCV001314073 SCV002044542 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2021-11-07 criteria provided, single submitter clinical testing

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