ClinVar Miner

Submissions for variant NC_000008.11:g.(?_47774153)_(47799410_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001033694 SCV001197001 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2019-03-14 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 72-86 of the PRKDC gene. The 5' boundary is likely confined to intron 71. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. This variant has not been reported in the literature in individuals with PRKDC-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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