ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2919A>G (p.Leu973=) (rs587779829)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000115166 SCV000214809 likely benign Hereditary cancer-predisposing syndrome 2016-03-15 criteria provided, single submitter clinical testing
Color RCV000115166 SCV000903204 likely benign Hereditary cancer-predisposing syndrome 2017-06-22 criteria provided, single submitter clinical testing
Counsyl RCV000463962 SCV000790742 likely benign Ataxia-telangiectasia syndrome 2017-04-06 criteria provided, single submitter clinical testing
GeneDx RCV000211990 SCV000149075 uncertain significance not provided 2018-10-16 criteria provided, single submitter clinical testing This variant is denoted ATM c.2919A>G at the DNA level. This variant is silent at the coding level, preserving a Leucine at codon 973. In silico analyses, which include splice predictors and evolutionary conservation, are inconsistent in their assessment as to whether or not the variant is damaging. This variant has been reported in at least two individuals with personal and/or family history of breast cancer as well as in at least one healthy control (Decker 2017, Kraus 2017, Tiao 2017). ATM c.2919A>G was not observed at a significant allele frequency in large population cohorts (Lek 2016). Based on currently available evidence, it is unclear whether ATM c.2919A>G is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Invitae RCV000463962 SCV000558329 likely benign Ataxia-telangiectasia syndrome 2017-12-16 criteria provided, single submitter clinical testing

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