ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4779A>G (p.Glu1593=)

gnomAD frequency: 0.00001  dbSNP: rs587778076
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164622 SCV000215286 likely benign Hereditary cancer-predisposing syndrome 2014-07-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health RCV000164622 SCV000682220 likely benign Hereditary cancer-predisposing syndrome 2016-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085126 SCV000749130 likely benign Ataxia-telangiectasia syndrome 2023-11-28 criteria provided, single submitter clinical testing
GeneDx RCV000841327 SCV000983288 likely benign not provided 2018-05-23 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000841327 SCV004221098 uncertain significance not provided 2018-12-03 criteria provided, single submitter clinical testing In the published literature, this variant has been reported in a cohort of unaffected individuals (PMID: 24728327 (2014)). The frequency of this variant in the general population, 0.000008 (2/251216 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect ATM mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000120141 SCV005039127 uncertain significance not specified 2024-03-25 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004589587 SCV005083789 benign Familial cancer of breast 2024-05-21 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
ITMI RCV000120141 SCV000084281 not provided not specified 2013-09-19 no assertion provided reference population

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.