ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5515C>T (p.Gln1839Ter) (rs786204751)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169605 SCV000221126 likely pathogenic Ataxia-telangiectasia syndrome 2015-02-13 criteria provided, single submitter literature only
Invitae RCV000169605 SCV000748945 pathogenic Ataxia-telangiectasia syndrome 2017-11-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1839*) 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 several individuals affected with ataxia telangiectasia (PMID: 9792409, 15928302, 22213089, 10873394, 22649200). ClinVar contains an entry for this variant (Variation ID: 189177). 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 Health, Inc RCV000777919 SCV000913961 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing
Department of Molecular Diagnostics, Institute of Oncology Ljubljana RCV001310117 SCV001499659 pathogenic Familial cancer of breast 2020-04-02 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579826 SCV001808636 pathogenic not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV001579826 SCV001952189 pathogenic not provided no assertion criteria provided clinical testing

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