ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2859G>A (p.Glu953=) (rs569489729)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481200 SCV000570909 uncertain significance not specified 2016-07-08 criteria provided, single submitter clinical testing This variant is denoted ATM c.2859G>A at the DNA level. Although this variant is silent at the coding level, preserving a Glutamic Acid at codon 953, multiple splicing models predict that this variant may strengthen a cryptic splice acceptor site for exon 19. However, in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as being pathogenic or benign. ATM c.2859G>A was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations.The nucleotide which is altered, a guanine (G) at base 2859, is not conserved. Based on currently available information, it is unclear whether ATM c.2859G>A is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Invitae RCV000539657 SCV000622369 likely benign Ataxia-telangiectasia syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571955 SCV000668036 likely benign Hereditary cancer-predisposing syndrome 2016-12-28 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Color RCV000571955 SCV000913908 likely benign Hereditary cancer-predisposing syndrome 2017-08-17 criteria provided, single submitter clinical testing

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