ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8217G>A (p.Leu2739=) (rs759069006)

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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 RCV000166774 SCV000217587 likely benign Hereditary cancer-predisposing syndrome 2014-11-12 criteria provided, single submitter clinical testing
Color RCV000166774 SCV000904748 likely benign Hereditary cancer-predisposing syndrome 2017-08-21 criteria provided, single submitter clinical testing
GeneDx RCV000432903 SCV000522132 likely benign not specified 2015-12-15 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.
Integrated Genetics/Laboratory Corporation of America RCV000587185 SCV000694373 uncertain significance not provided 2016-12-09 criteria provided, single submitter clinical testing Variant summary: The ATM c.8217G>A (p.Leu2739Leu) variant causes a synonymous change involving a non-conserved nucleotide, which resulting in a synonymous change, which 5/5 splice prediction tools predict no significant impact on normal splicing and ESE finder predicts alterations to ESE binding, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 1/120330, which does not exceed the estimated maximal expected allele frequency for a pathogenic ATM variant of 1/999. The variant of interest has not, to our knowledge, been reported in affected individuals via publications. A clinical diagnostic laboratory cites the variant as "likely benign." Therefore, until additional information becomes available (ie, clinical and functional studies), the variant of interest has been classified as a "Variant of Uncertain Significance - Possibly Benign."

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