ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8711A>G (p.Glu2904Gly) (rs786202826)

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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 RCV000165842 SCV000216590 likely pathogenic Hereditary cancer-predisposing syndrome 2014-09-16 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000659280 SCV000781080 likely pathogenic Familial cancer of breast 2016-11-01 criteria provided, single submitter clinical testing
Color RCV000165842 SCV000905052 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-12 criteria provided, single submitter clinical testing
Invitae RCV000230822 SCV000283088 likely pathogenic Ataxia-telangiectasia syndrome 2016-02-01 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glycine at codon 2904 of the ATM protein (p.Glu2904Gly). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the literature in the homozygous state in an individual affected with ataxia-telangiectasia (PMID: 8845835). ClinVar contains an entry for this variant (Variation ID: 186276). Experimental studies have shown that this missense change affects the function and stability of the encoded ATM protein in vitro (PMID: 9244351). For these reasons, this variant has been classified as Likely Pathogenic.

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