ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.2185-1G>A (rs1057517262)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409942 SCV000487006 likely pathogenic Microcephaly, normal intelligence and immunodeficiency 2016-09-22 criteria provided, single submitter clinical testing
Invitae RCV000409942 SCV000553105 likely pathogenic Microcephaly, normal intelligence and immunodeficiency 2018-12-26 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 14 of the NBN gene. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with a NBN-related disease. In summary, donor and acceptor splice site variants are typically truncating (PMID: 16199547), and loss of function in NBN are known to be pathogenic (PMID: 9590180, 16415040). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.

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