ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2494C>T (p.Arg832Cys) (rs2229022)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129082 SCV000183785 likely benign Hereditary cancer-predisposing syndrome 2017-04-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Co-occurence with mutation in same gene (phase unknown)
Color RCV000129082 SCV000902655 likely benign Hereditary cancer-predisposing syndrome 2015-04-24 criteria provided, single submitter clinical testing
GeneDx RCV000211982 SCV000209704 likely benign not specified 2017-10-02 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.
GeneKor MSA RCV000129082 SCV000821791 likely benign Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000211982 SCV000593499 uncertain significance not specified 2016-09-08 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587618 SCV000694227 uncertain significance not provided 2017-04-06 criteria provided, single submitter clinical testing Variant summary: The ATM c.2494C>T (p.Arg832Cys) variant located in the Armadillo-like helical domain (via InterPro) involves the alteration of a non-conserved nucleotide and 3/4 in silico tools (SNPs&GO not captured due to low reliability index) predict a benign outcome, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 26/120666 (1/4640), which does not exceed the estimated maximal expected allele frequency of a pathogenic ATM variant of 1/999 for Breast Cancer. Multiple publications have cited the variant in affected individuals with varying phenotypes, lynch syndrome, breast cancer, chronic lymphocytic leukemia, and pancreatic cancer, as germline and somatic occurrences. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as uncertain significance. Therefore, until additional information becomes available (ie, functional studies), the variant of interest has been classified as a "Variant of Uncertain Significance (VUS)."
Invitae RCV000199664 SCV000254070 likely benign Ataxia-telangiectasia syndrome 2018-01-10 criteria provided, single submitter clinical testing
Mendelics RCV000199664 SCV000838507 uncertain significance Ataxia-telangiectasia syndrome 2018-07-02 criteria provided, single submitter clinical testing
PreventionGenetics RCV000587618 SCV000805517 uncertain significance not provided 2014-04-10 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000129082 SCV000805213 likely benign Hereditary cancer-predisposing syndrome 2018-05-08 no assertion criteria provided clinical testing

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