ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6095+8G>T (rs547072690)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000579757 SCV000682302 likely benign Hereditary cancer-predisposing syndrome 2015-04-24 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586152 SCV000694315 uncertain significance not provided 2017-05-22 criteria provided, single submitter clinical testing Variant summary: c. c.6095+8G>T in ATM gene is an intronic change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this do not affect a normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in the control population datasets of ExAC and gnomAD at frequency of 0.000025 (3/121226 and 7/277150 chrs tested, respectively), exclusively in individuals of East Asian descent (0.00035; 3/8608 and 0.00037; 7/18846 chrs tested, respectively). Although, the observed frequencies do not exceed the maximum expected allele frequency for a pathogenic variant of 0.001, the variant may still represent a rare ethnic specific polymorphism. The variant of interest has not, to our knowledge, been identified in affected individuals via published reports, but is sited as Likely Benign by a reputable database/clinical laboratory. Taking together, the variant was classified as VUS-possibly benign.
Invitae RCV000230946 SCV000283005 likely benign Ataxia-telangiectasia syndrome 2017-12-07 criteria provided, single submitter clinical testing

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