ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8100A>G (p.Lys2700=) (rs778601472)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163063 SCV000213557 likely benign Hereditary cancer-predisposing syndrome 2015-05-13 criteria provided, single submitter clinical testing
Color RCV000163063 SCV000682454 likely benign Hereditary cancer-predisposing syndrome 2017-05-09 criteria provided, single submitter clinical testing
Counsyl RCV000472585 SCV000789171 likely benign Ataxia-telangiectasia syndrome 2017-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000434133 SCV000512180 likely benign not specified 2017-08-15 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.
Integrated Genetics/Laboratory Corporation of America RCV000434133 SCV000916589 uncertain significance not specified 2018-08-17 criteria provided, single submitter clinical testing Variant summary: ATM c.8100A>G 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 0.00012 in 277062 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in ATM causing Ataxia-Telangiectasia (0.00012 vs 0.004), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.8100A>G in individuals affected with Ataxia-Telangiectasia and no experimental evidence demonstrating its impact on protein function have been reported. Five 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 RCV000472585 SCV000558379 likely benign Ataxia-telangiectasia syndrome 2018-01-11 criteria provided, single submitter clinical testing
PreventionGenetics RCV000679145 SCV000805623 likely benign not provided 2018-01-02 criteria provided, single submitter clinical testing

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