ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.3300G>A (p.Thr1100=) (rs587780621)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162548 SCV000212956 likely benign Hereditary cancer-predisposing syndrome 2014-09-11 criteria provided, single submitter clinical testing
Color RCV000162548 SCV000682116 likely benign Hereditary cancer-predisposing syndrome 2015-07-16 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000779771 SCV000916561 uncertain significance not specified 2018-03-16 criteria provided, single submitter clinical testing Variant summary: ATM c.3300G>A 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 allele was found at a frequency of 3.3e-05 in 241734 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in ATM causing Breast Cancer (3.3e-05 vs 0.001), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.3300G>A 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 and both of them classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Invitae RCV000122841 SCV000166099 likely benign Ataxia-telangiectasia syndrome 2017-12-11 criteria provided, single submitter clinical testing

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