ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6573-11G>A (rs375599653)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479451 SCV000567694 uncertain significance not provided 2017-03-10 criteria provided, single submitter clinical testing This variant is denoted ATM c.6573-11G>A or IVS45-11G>A and consists of a G>A nucleotide substitution at the -11 position of intron 45 of the ATM gene. ATM c.6573-11G>A was not observed at a significant allele frequency in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. The guanine (G) nucleotide that is altered is not conserved. In silico models are inconclusive with respect to splicing, and in the absence of RNA or functional studies, the actual effect of this variant is unknown. Based on currently available information, it is unclear whether ATM c.6573-11G>A is pathogenic or benign. We consider it to be a variant of uncertain significance.
Color RCV000771923 SCV000904709 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-29 criteria provided, single submitter clinical testing

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