ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7515+19A>T (rs879254202)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000584377 SCV000687773 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-05 criteria provided, single submitter clinical testing
GeneDx RCV000236521 SCV000293801 uncertain significance not provided 2016-01-07 criteria provided, single submitter clinical testing This variant is denoted ATM c.7515+19A>T or IVS50+19A>T and consists of a A>T nucleotide substitution at the +19 position of intron 50 of the ATM gene. In silico models do not predict an impact on splicing. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. ATM c.7515+19A>T was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. The adenine (A) nucleotide that is altered is conserved across species. Based on currently available information, it is unclear whether ATM c.7515+19A>T is pathogenic or benign.

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