ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8152-6C>T (rs200389039)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000582342 SCV000687820 likely benign Hereditary cancer-predisposing syndrome 2017-10-20 criteria provided, single submitter clinical testing
GeneDx RCV000599710 SCV000722257 likely benign not specified 2017-08-24 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 RCV000599710 SCV000918574 uncertain significance not specified 2018-11-19 criteria provided, single submitter clinical testing Variant summary: ATM c.8152-6C>T alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 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 1.1e-05 in 276412 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.8152-6C>T in individuals affected with Ataxia-Telangiectasia and no experimental evidence demonstrating its impact on protein function have been reported. Three ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cite the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.
Invitae RCV000472526 SCV000558382 likely benign Ataxia-telangiectasia syndrome 2017-03-05 criteria provided, single submitter clinical testing

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