ClinVar Miner

Submissions for variant NM_001330368.2(C11orf65):c.641-17046dup (rs1555119834)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531328 SCV000622693 pathogenic Ataxia-telangiectasia syndrome 2018-02-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu2290*) 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 in the literature as homozygous in an individual affected with ataxia-telangiectasia (PMID: 9887333). This variant is also known as 6867insT in the literature. ClinVar contains an entry for this variant (Variation ID: 453645). Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000561418 SCV000667974 pathogenic Hereditary cancer-predisposing syndrome 2018-11-08 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Academic Department of Medical Genetics, University of Cambridge RCV000561418 SCV000992204 pathogenic Hereditary cancer-predisposing syndrome 2018-01-26 criteria provided, single submitter research Application of AMCG guidelines 2015. Used other ClinVar submission evidence where relevant. Loss of heterozygosity in tumours or immunohistochemistry abnormalities considered functional evidence of pathogenicity.

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