ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.1351C>T (p.Arg451Cys) (rs201719927)

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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 RCV000164863 SCV000215547 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-18 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV000200270 SCV000254059 likely benign Ataxia-telangiectasia syndrome 2019-12-28 criteria provided, single submitter clinical testing
GeneDx RCV000235327 SCV000293032 uncertain significance not provided 2018-12-18 criteria provided, single submitter clinical testing This variant is denoted ATM c.1351C>T at the cDNA level, p.Arg451Cys (R451C) at the protein level, and results in the change of an Arginine to a Cysteine (CGT>TGT). This variant has been reported in at least two individuals with breast cancer (Lu 2015, Mannan 2016). ATM Arg451Cys was observed at an allele frequency of 0.07% (23/30,782) in individuals of South Asian ancestry in large population cohorts (Lek 2016). ATM Arg451Cys is not located in a known functional domain. In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, it is unclear whether ATM Arg451Cys is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Color RCV000164863 SCV000681971 uncertain significance Hereditary cancer-predisposing syndrome 2019-10-23 criteria provided, single submitter clinical testing
Counsyl RCV000200270 SCV000788904 uncertain significance Ataxia-telangiectasia syndrome 2016-12-21 criteria provided, single submitter clinical testing

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