ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.827C>G (p.Thr276Arg)

gnomAD frequency: 0.00001  dbSNP: rs864622304
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000205187 SCV000260055 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2022-08-15 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with arginine, which is basic and polar, at codon 276 of the NBN protein (p.Thr276Arg). This variant is present in population databases (no rsID available, gnomAD 0.01%). 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: 219906). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV000219109 SCV000276771 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-25 criteria provided, single submitter clinical testing The c.827C>G (p.T276R) alteration is located in exon 7 (coding exon 7) of the NBN gene. This alteration results from a C to G substitution at nucleotide position 827, causing the threonine (T) at amino acid position 276 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759889 SCV000889558 uncertain significance not provided 2021-08-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000205187 SCV002044775 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2021-11-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV004567459 SCV005056110 uncertain significance Aplastic anemia 2024-03-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000205187 SCV001457047 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2020-01-24 no assertion criteria provided clinical testing

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