ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5890A>T (p.Lys1964Ter) (rs201963507)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570753 SCV000667830 pathogenic Hereditary cancer-predisposing syndrome 2017-02-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Color RCV000570753 SCV000682289 pathogenic Hereditary cancer-predisposing syndrome 2017-04-03 criteria provided, single submitter clinical testing
Counsyl RCV000206728 SCV000799227 likely pathogenic Ataxia-telangiectasia syndrome 2018-04-11 criteria provided, single submitter clinical testing
GeneDx RCV000159769 SCV000209790 likely pathogenic not provided 2015-12-18 criteria provided, single submitter clinical testing This likely pathogenic variant is denoted ATM c.5890A>T at the cDNA level and p.Lys1964Ter (K1964X) at the protein level. The substitution creates a nonsense variant, which changes a Lysine to a premature stop codon (AAG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been observed in the compound heterozygous state in a case of Ataxia Telangiectasia (Du 2008) and is considered likely pathogenic.
Invitae RCV000206728 SCV000261307 pathogenic Ataxia-telangiectasia syndrome 2018-05-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys1964*) in the ATM gene. It is expected to result in an absent or disrupted protein product. This variant has been observed in an individual affected with ataxia-telangiectasia (PMID: 18321536). ClinVar contains an entry for this variant (Variation ID: 182000). Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.

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