ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.602A>G (p.Asp201Gly)

dbSNP: rs587780098
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562999 SCV000662660 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-09 criteria provided, single submitter clinical testing The p.D201G variant (also known as c.602A>G), located in coding exon 6 of the NBN gene, results from an A to G substitution at nucleotide position 602. The aspartic acid at codon 201 is replaced by glycine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000636721 SCV000758161 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2025-02-03 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 201 of the NBN protein (p.Asp201Gly). This variant is present in population databases (rs587780098, gnomAD 0.003%). 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: 480015). 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. 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.
GeneDx RCV001568159 SCV001791983 uncertain significance not provided 2019-11-27 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000636721 SCV002045165 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2021-11-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV003470829 SCV004199664 uncertain significance Aplastic anemia 2023-05-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV000636721 SCV001460736 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2020-09-16 no assertion criteria provided clinical testing

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