ClinVar Miner

Submissions for variant NC_000008.11:g.(?_89935581)_(89937075_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000195535 SCV000253707 likely pathogenic Microcephaly, normal intelligence and immunodeficiency 2015-03-24 criteria provided, single submitter clinical testing This sequence change is a gross deletion of the genomic region encompassing exons 15-16 of the NBN gene. This deletion extends to both edges of the assayed region, and the 5' and 3' boundaries of this event are not known. While this particular variant has not been reported in the literature, truncating sequence changes in NBN are known to be pathogenic (PMID: 9590180, 16415040). Deletion of exons 15-16 will result in the loss of amino acids 729-754 of the NBN protein, including the termination codon, and is expected to result in an absent or disrupted protein product. This deletion will also lead to the loss of the ATM interaction domain (amino acids 734-754) of the NBN protein (PMID: 24894818, 21035407), which has been shown to be important for activating ATM (PMID: 15064416, 15790808). For these reasons, this variant has been classified as Likely Pathogenic.

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