ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.1398-10T>A (rs539960851)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000776213 SCV000911371 likely benign Hereditary cancer-predisposing syndrome 2015-10-01 criteria provided, single submitter clinical testing
Counsyl RCV000463346 SCV000799727 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2018-05-04 criteria provided, single submitter clinical testing
GeneDx RCV000214666 SCV000279128 uncertain significance not provided 2018-06-14 criteria provided, single submitter clinical testing This variant is denoted NBN c.1398-10T>A or IVS10-10T>A and consists of a T>A nucleotide substitution at the -10 position of intron 10 of the NBN gene. Multiple in silico models predict this variant to damage or destroy the nearby natural acceptor site and to possibly cause abnormal gene splicing; however, in the absence of RNA or functional studies, the actual effect of this variant is unknown.? Although this variant has not, to our knowledge, been published in the literature as a germline variant, it has been reported as a confirmed somatic variant in prostate cancer (Kumar 2016). NBN c.1398-10T>A was not observed in large population cohorts (Lek 2016). Based on currently available evidence, it is unclear whether NBN c.1398-10T>A is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Invitae RCV000463346 SCV000562946 likely benign Microcephaly, normal intelligence and immunodeficiency 2017-11-09 criteria provided, single submitter clinical testing

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