ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.1651dup (p.Arg551fs)

dbSNP: rs766044684
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000221563 SCV000278787 pathogenic Hereditary cancer-predisposing syndrome 2022-03-03 criteria provided, single submitter clinical testing The c.1651dupA pathogenic mutation, located in coding exon 11 of the NBN gene, results from a duplication of A at nucleotide position 1651, causing a translational frameshift with a predicted alternate stop codon (p.R551Kfs*5). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Labcorp Genetics (formerly Invitae), Labcorp RCV000472929 SCV000552998 pathogenic Microcephaly, normal intelligence and immunodeficiency 2024-04-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg551Lysfs*5) in the NBN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NBN are known to be pathogenic (PMID: 9590180, 16415040). This variant is present in population databases (rs766044684, gnomAD 0.002%). 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: 234246). For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985867 SCV001134496 pathogenic not provided 2019-05-17 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and found in general population data that is consistent with pathogenicity.
Revvity Omics, Revvity RCV000985867 SCV002018228 pathogenic not provided 2019-06-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000472929 SCV002045325 pathogenic Microcephaly, normal intelligence and immunodeficiency 2021-11-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000985867 SCV002545627 pathogenic not provided 2022-06-01 criteria provided, single submitter clinical testing NBN: PVS1, PM2
Baylor Genetics RCV003469104 SCV004199563 pathogenic Aplastic anemia 2024-02-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005044459 SCV005674438 likely pathogenic Microcephaly, normal intelligence and immunodeficiency; Aplastic anemia; Acute lymphoid leukemia 2024-06-17 criteria provided, single submitter clinical testing

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