ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.9166G>T (p.Val3056Leu) (rs371767164)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000159672 SCV000214859 uncertain significance Hereditary cancer-predisposing syndrome 2018-02-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000159672 SCV000911649 likely benign Hereditary cancer-predisposing syndrome 2016-04-28 criteria provided, single submitter clinical testing
Counsyl RCV000200661 SCV000792420 uncertain significance Ataxia-telangiectasia syndrome 2017-06-23 criteria provided, single submitter clinical testing
GeneDx RCV000589071 SCV000209673 uncertain significance not provided 2018-05-17 criteria provided, single submitter clinical testing This variant is denoted ATM c.9166G>T at the cDNA level, p.Val3056Leu (V3056L) at the protein level, and results in the change of a Valine to a Leucine (GTG>TTG). This variant has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant. ATM Val3056Leu was not observed in large population cohorts (Lek 2016). This variant is located in the FATC domain (Stracker 2013). In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether ATM Val3056Leu is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Integrated Genetics/Laboratory Corporation of America RCV000589071 SCV000694391 uncertain significance not provided 2016-01-11 criteria provided, single submitter clinical testing
Invitae RCV000200661 SCV000254162 uncertain significance Ataxia-telangiectasia syndrome 2018-10-15 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 3056 of the ATM protein (p.Val3056Leu). The valine residue is moderately conserved and there is a small physicochemical difference between valine and leucine. This variant is present in population databases (rs371767164, ExAC 0.002%). This variant has not been reported in the literature in individuals with ATM-related disease. ClinVar contains an entry for this variant (Variation ID: 181908). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mendelics RCV000200661 SCV000838626 uncertain significance Ataxia-telangiectasia syndrome 2018-07-02 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.