ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1943_1944insG (p.Glu649fs)

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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 RCV004818826 SCV005438697 likely pathogenic Ataxia-telangiectasia syndrome 2023-07-22 criteria provided, single submitter clinical testing The observed frameshift c.1943_1944insGp.Glu649ArgfsTer10 variant in ATM gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in gnomAD Exomes. This variant causes a frameshift starting with codon Glutamic Acid 649, changes this amino acid to Arginine residue, and creates a premature Stop codon at position 10 of the new reading frame, denoted p.Glu649ArgfsTer10. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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