ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8546G>C (p.Arg2849Pro) (rs587782202)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000582030 SCV000687840 likely pathogenic Hereditary cancer-predisposing syndrome 2018-08-18 criteria provided, single submitter clinical testing
Invitae RCV000805253 SCV000945201 likely pathogenic Ataxia-telangiectasia syndrome 2018-12-13 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 2849 of the ATM protein (p.Arg2849Pro). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with ataxia-telangiectasia (PMID: 9887333, 23667852). ClinVar contains an entry for this variant (Variation ID: 490737). Experimental studies have shown that this missense change disrupts ATM kinase activity and increases radiosensitivity (PMID: 11805335). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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