ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2466+8T>A (rs765619483)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000590812 SCV000694223 uncertain significance not provided 2015-11-25 criteria provided, single submitter clinical testing Variant summary: ATM c.2466+8T>A is an intronic mutation that affects a non-conserved nucleotide. Mutation Taster predicts a disease-causing outcome and 2/5 Alamut algorithms predict a potential change to splicing; however, these in silico predictions have not been verified with in vitro/vivo studies. This variant was found in 1/110466 control chromosomes at a frequency of 0.0000091, which does not significantly exceed maximal expected frequency of a pathogenic allele (0.0039528). The variant of interest has not been reported in affected individuals via publications and/or reputable databases/clinical laboratories. Because of the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available.
Invitae RCV000477551 SCV000558408 likely benign Ataxia-telangiectasia syndrome 2017-10-13 criteria provided, single submitter clinical testing

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