ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.1635_1636del (p.Arg546fs) (rs1563526063)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000757548 SCV000885818 pathogenic not provided 2017-12-01 criteria provided, single submitter clinical testing The p.Arg546fs variant has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant creates a frameshift in the NBN protein at codon 546 in exon 11/16 which results in a premature termination codon and is predicted to result in a truncated or absent protein product. It is absent from general population databases such as 1000 Genomes, NHLBI GO Exome Sequencing Project (ESP), and the Genome Aggregation Database (gnomAD). Frameshift variants in the NBN gene are a major cause of Nijmegen breakage syndrome (Gene reviews, Varon 1998). Given this evidence, the p.Arg546fs variant is considered to be pathogenic.

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