ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6397C>T (p.Gln2133Ter) (rs876658163)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000219604 SCV000273047 pathogenic Hereditary cancer-predisposing syndrome 2014-11-24 criteria provided, single submitter clinical testing
GeneDx RCV000657712 SCV000779461 pathogenic not provided 2017-03-03 criteria provided, single submitter clinical testing This variant is denoted ATM c.6397C>T at the cDNA level and p.Gln2133Ter (Q2133X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been identified in a chronic lymphocytic leukemia (CLL) patient (Herling 2016). We consider this variant to be pathogenic.
Invitae RCV000472831 SCV000547096 pathogenic Ataxia-telangiectasia syndrome 2018-01-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 2133 (p.Gln2133*) of the ATM gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in ATM are known to be pathogenic (PMID: 25614872, 23807571). For these reasons, this variant has been classified as Pathogenic.

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