ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2840A>G (p.Tyr947Cys) (rs587779827)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000115164 SCV000149073 uncertain significance not provided 2014-02-24 criteria provided, single submitter clinical testing This variant is denoted ATM c.2840A>G at the cDNA level, p.Tyr947Cys (Y947C) at the protein level, and results in the change of a Tyrosine to a Cysteine (TAT>TGT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. ATM Tyr947Cys was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Tyrosine and Cysteine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution and is likely to affect protein integrity. ATM Tyr947Cys occurs at a position that is highly conserved across species and is not located in a known functional domain. In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available information, it is unclear whether ATM Tyr947Cys is pathogenic or benign. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000564185 SCV000660738 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient evidence

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