ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.69A>G (p.Arg23=) (rs876659304)

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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 RCV000221002 SCV000275615 likely benign Hereditary cancer-predisposing syndrome 2015-05-05 criteria provided, single submitter clinical testing
GeneDx RCV000484040 SCV000569825 uncertain significance not provided 2017-05-16 criteria provided, single submitter clinical testing This variant is denoted ATM c.69A>G at the DNA level. This variant is silent at the coding level, preserving an Arginine at codon 23. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. In silico analyses are inconsistent regarding the effect this variant may have on splicing. In the absence of RNA or functional studies, the actual effect of this variant is unknown. ATM c.69A>G was not observed in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). The nucleotide which is altered, an adenine (A) at base 69, is conserved through mammals. Based on currently available information, it is unclear whether ATM c.69A>G is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Invitae RCV000527654 SCV000622707 likely benign Ataxia-telangiectasia syndrome 2017-01-20 criteria provided, single submitter clinical testing
Color RCV000221002 SCV000911626 likely benign Hereditary cancer-predisposing syndrome 2018-03-13 criteria provided, single submitter clinical testing

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