ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6966C>T (p.Ser2322=) (rs864622593)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562923 SCV000660515 likely benign Hereditary cancer-predisposing syndrome 2015-11-23 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000779804 SCV000916608 uncertain significance not specified 2018-11-12 criteria provided, single submitter clinical testing Variant summary: ATM c.6966C>T alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 246116 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.6966C>T in individuals affected with Ataxia-Telangiectasia and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Invitae RCV000206340 SCV000261258 likely benign Ataxia-telangiectasia syndrome 2015-10-15 criteria provided, single submitter clinical testing

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