ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.3468G>A (p.Thr1156=) (rs148358896)

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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 RCV000162776 SCV000213253 likely benign Hereditary cancer-predisposing syndrome 2014-12-01 criteria provided, single submitter clinical testing
Invitae RCV000198955 SCV000252959 likely benign Ataxia-telangiectasia syndrome 2017-11-15 criteria provided, single submitter clinical testing
GeneDx RCV000419306 SCV000515427 likely benign not specified 2017-12-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color RCV000162776 SCV000682130 likely benign Hereditary cancer-predisposing syndrome 2016-11-22 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000419306 SCV000918544 uncertain significance not specified 2018-05-18 criteria provided, single submitter clinical testing Variant summary: ATM c.3468G>A alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This frequency is lower than expected for a pathogenic variant in ATM causing Ataxia-Telangiectasia (4.1e-05 vs 0.004), allowing no conclusion about variant significance. c.3468G>A has been reported in the literature in individuals affected with Non-Hodgkin lymphoma (Sipahimalan_2007). These report(s) do not provide unequivocal conclusions about association of the variant with Ataxia-Telangiectasia or Breast Cancer. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.

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