ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2598T>G (p.Val866=) (rs730881350)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562239 SCV000665252 likely benign Hereditary cancer-predisposing syndrome 2018-03-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000562239 SCV000913902 likely benign Hereditary cancer-predisposing syndrome 2018-06-26 criteria provided, single submitter clinical testing
GeneDx RCV000159699 SCV000209709 uncertain significance not provided 2014-07-02 criteria provided, single submitter clinical testing This variant is denoted ATM c.2598T>G at the DNA level. Although the variant is silent at the coding level, preserving a Valine at codon 866, it is predicted to cause abnormal splicing. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. ATM 2598T>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, a thymine (T) at base 2598, is moderately conserved across species with guanine (G) being the naturally occurring amino acid in other mammals. Based on currently available information, it is unclear whether ATM 2598T>G is pathogenic or benign. We consider it to be a variant of uncertain significance.

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