ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.1474C>T (p.Gln492Ter) (rs587782130)

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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 RCV000130673 SCV000185559 pathogenic Hereditary cancer-predisposing syndrome 2019-04-19 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Rarity in general population databases (dbsnp, esp, 1000 genomes)
GeneDx RCV000480769 SCV000570348 pathogenic not provided 2016-05-16 criteria provided, single submitter clinical testing This variant is denoted NBN c.1474C>T at the cDNA level and p.Gln492Ter (Q492X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic.
Invitae RCV000529643 SCV000634229 pathogenic Microcephaly, normal intelligence and immunodeficiency 2018-11-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln492*) in the NBN gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NBN-related disease. ClinVar contains an entry for this variant (Variation ID: 141946). Loss-of-function variants in NBN are known to be pathogenic (PMID: 9590180, 16415040). For these reasons, this variant has been classified as Pathogenic.
Color RCV000130673 SCV000690664 pathogenic Hereditary cancer-predisposing syndrome 2016-09-27 criteria provided, single submitter clinical testing

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