ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.1235+5A>T (rs1064793679)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000775952 SCV000910457 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-23 criteria provided, single submitter clinical testing
GeneDx RCV000486242 SCV000566760 uncertain significance not provided 2015-06-01 criteria provided, single submitter clinical testing This variant is denoted ATM c.1235+5A>T or IVS9+5A>T and consists of a A>T nucleotide substitution at the +5 position of intron 9 of the ATM gene. In silico analysis predicts this variant to weaken the nearby natural donor site, and to possibly cause abnormal gene splicing. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. The adenine (A) nucleotide that is altered is conserved across species. Based on currently available information, it is unclear whether ATM c.1235+5A>T is pathogenic or benign. We consider it to be a variant of uncertain significance.
Invitae RCV000524585 SCV000622242 likely benign Ataxia-telangiectasia syndrome 2017-04-11 criteria provided, single submitter clinical testing

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