ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8187A>G (p.Gln2729=) (rs587781946)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486743 SCV000564665 uncertain significance not provided 2015-02-28 criteria provided, single submitter clinical testing This variant is denoted ATM c.8187A>G at the DNA level. Although the variant is silent at the coding level, preserving a Glutamine at codon 2729, splicing models show discordant results, with a subset predicting abnormal splicing. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. ATM 8187A>G 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. The nucleotide which is altered, an adenine (A) at base 8187, is non-conserved across species. Based on currently available information, it is unclear whether ATM 8187A>G is pathogenic or benign. We consider it to be a variant of uncertain significance.
Invitae RCV000799140 SCV000938791 uncertain significance Ataxia-telangiectasia syndrome 2018-12-20 criteria provided, single submitter clinical testing This sequence change affects codon 2729 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). This variant has not been reported in the literature in individuals with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 418045). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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