ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2289T>A (p.Phe763Leu) (rs34231402)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000211979 SCV000149061 likely benign not specified 2017-11-20 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.
Invitae RCV000122834 SCV000166092 benign Ataxia-telangiectasia syndrome 2018-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000115152 SCV000172935 likely benign Hereditary cancer-predisposing syndrome 2017-08-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: No disease association in small case-control study,In silico models in agreement (benign),Co-occurence with mutation in same gene (phase unknown)
Fulgent Genetics,Fulgent Genetics RCV000515303 SCV000611351 uncertain significance Familial cancer of breast; Ataxia-telangiectasia syndrome 2017-05-23 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588896 SCV000694216 likely benign not provided 2016-05-09 criteria provided, single submitter clinical testing Variant summary: The ATM c.2289T>A (p.Phe763Leu) variant involves the alteration of a non-conserved nucleotide. 4/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 65/122956 control chromosomes at a frequency of 0.0005286, which is approximately 1.1 folds of the estimated maximal expected allele frequency of a pathogenic ATM variant (0.0005001), suggesting this variant is likely a benign polymorphism. This variant has been reported in multiple BrC patients and one OvC patient all without strong evidence for causality. Multiple clinical diagnostic laboratories/reputable databases classified this variant as VUS, without evidence to independently evaluate. Taken together, this variant is classified as likely benign until more information becomes available.
PreventionGenetics,PreventionGenetics RCV000588896 SCV000805515 likely benign not provided 2017-11-29 criteria provided, single submitter clinical testing
GeneKor MSA RCV000115152 SCV000821837 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Mendelics RCV000122834 SCV000838502 likely benign Ataxia-telangiectasia syndrome 2018-07-02 criteria provided, single submitter clinical testing
Color RCV000115152 SCV000902588 benign Hereditary cancer-predisposing syndrome 2015-11-10 criteria provided, single submitter clinical testing

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