ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.37+6G>A (rs540868733)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000583750 SCV000690712 likely benign Hereditary cancer-predisposing syndrome 2017-01-12 criteria provided, single submitter clinical testing
Counsyl RCV000457854 SCV000800287 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2018-05-29 criteria provided, single submitter clinical testing
GeneDx RCV000612117 SCV000714476 likely benign not specified 2018-01-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000457854 SCV000553136 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2018-11-13 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the NBN gene. It does not directly change the encoded amino acid sequence of the NBN protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs540868733, ExAC 0.2%). This variant has not been reported in the literature in individuals with NBN-related disease. ClinVar contains an entry for this variant (Variation ID: 411792). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. 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.

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