ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6040G>T (p.Glu2014Ter) (rs375783941)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412041 SCV000486976 likely pathogenic Ataxia-telangiectasia syndrome 2016-09-14 criteria provided, single submitter clinical testing
GeneDx RCV000657612 SCV000779354 pathogenic not provided 2018-03-07 criteria provided, single submitter clinical testing This variant is denoted ATM c.6040G>T at the cDNA level and p.Glu2014Ter (E2014X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamic Acid to a premature stop codon (GAG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported as homozygous in a patient with Ataxia Telangiectasia (Sandoval 1999), and is considered pathogenic.
Invitae RCV000412041 SCV000833459 pathogenic Ataxia-telangiectasia syndrome 2018-04-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu2014*) in the ATM gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported as homozygous in an individual affected with ataxia telangiectasia (PMID: 9887333). ClinVar contains an entry for this variant (Variation ID: 371405). Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.
Color RCV000775840 SCV000910311 pathogenic Hereditary cancer-predisposing syndrome 2017-12-07 criteria provided, single submitter clinical testing

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