ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.2081C>G (p.Pro694Arg)

dbSNP: rs746090959
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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 RCV000561103 SCV000666520 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-16 criteria provided, single submitter clinical testing The p.P694R variant (also known as c.2081C>G), located in coding exon 14 of the NBN gene, results from a C to G substitution at nucleotide position 2081. The proline at codon 694 is replaced by arginine, an amino acid with dissimilar 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 RCV001059040 SCV001223644 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2022-01-27 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 694 of the NBN protein (p.Pro694Arg). This variant is present in population databases (rs746090959, gnomAD 0.0009%). 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: 481835). 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: "Probably 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.
Genome-Nilou Lab RCV001059040 SCV002046065 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2021-11-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV004569158 SCV005056172 uncertain significance Aplastic anemia 2024-01-16 criteria provided, single submitter clinical testing

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