ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1802+1del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003337714 SCV004047928 uncertain significance Ataxia-telangiectasia syndrome criteria provided, single submitter clinical testing The splice donor c.1802+1del variant has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1802+1del variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. Loss of function variants have been previously reported to be disease causing. This variant mutates a splice-donor sequence, potentially resulting in the retention of large segments of intronic DNA by the mRNA and non-functional proteins. For these reasons, this variant has been classified as Likely Pathogenic.

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