ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.1911_1914+1del (rs1554556880)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000582963 SCV000690683 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-08 criteria provided, single submitter clinical testing
Invitae RCV000804835 SCV000944768 likely pathogenic Microcephaly, normal intelligence and immunodeficiency 2018-12-07 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing part of exon 12 (c.1911_1914+1del) of the NBN gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with NBN-related conditions. ClinVar contains an entry for this variant (Variation ID: 492105). 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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