ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5190A>G (p.Arg1730=) (rs786201609)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163965 SCV000214564 likely benign Hereditary cancer-predisposing syndrome 2017-12-21 criteria provided, single submitter clinical testing
GeneDx RCV000437433 SCV000526973 likely benign not specified 2016-04-19 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.
Genetic Services Laboratory, University of Chicago RCV000437433 SCV000593485 likely benign not specified 2017-01-27 criteria provided, single submitter clinical testing
Invitae RCV000460695 SCV000546702 uncertain significance Ataxia-telangiectasia syndrome 2018-09-03 criteria provided, single submitter clinical testing This sequence change affects codon 1730 of the ATM mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ATM protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an ATM-related disease. ClinVar contains an entry for this variant (Variation ID: 184675). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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