ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8535G>A (p.Trp2845Ter) (rs1555138291)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671076 SCV000796017 likely pathogenic Ataxia-telangiectasia syndrome 2017-11-30 criteria provided, single submitter clinical testing
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital RCV000722036 SCV000853213 likely pathogenic Glioblastoma 2018-07-17 criteria provided, single submitter clinical testing This is an nonsense alteration in which a G is replaced by an A at nucleotide 8535 that is predicted to change the Tryptophan to a premature stop at codon 2845. Classification criteria: PVS1, PM2.
Athena Diagnostics Inc RCV000991563 SCV001143124 likely pathogenic not provided 2018-08-27 criteria provided, single submitter clinical testing The variant creates a premature nonsense codon, and is therefore predicted to significantly disrupt the protein structure. Not found in the total gnomAD dataset, and the data is high quality (0/276812 chr).

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