ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.163_171+3del (rs1057516772)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409755 SCV000486201 likely pathogenic Microcephaly, normal intelligence and immunodeficiency 2016-04-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000566032 SCV000662689 likely pathogenic Hereditary cancer-predisposing syndrome 2016-03-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity
Color RCV000566032 SCV000690670 likely pathogenic Hereditary cancer-predisposing syndrome 2017-08-17 criteria provided, single submitter clinical testing
Invitae RCV000409755 SCV000940767 likely pathogenic Microcephaly, normal intelligence and immunodeficiency 2018-10-03 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing part of exon 2 (c.163_171+3delACCAACCTGGTA) of the NBN gene. It is expected to disrupt RNA splicing and likely results 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: 370793). Loss-of-function variants in NBN are known to be pathogenic (PMID: 9590180, 16415040). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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