ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7540_7541TA[1] (p.Tyr2514_Lys2515delinsTer) (rs1555123981)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000771704 SCV000904338 pathogenic Hereditary cancer-predisposing syndrome 2017-12-22 criteria provided, single submitter clinical testing
Invitae RCV000627914 SCV000748798 pathogenic Ataxia-telangiectasia syndrome 2017-11-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr2514*) in the ATM gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This particular variant has not been reported in the literature in individuals with ATM-related disease. Different nucleotide changes (c.7542T>G and c.7542T>A) giving rise to the same protein effect (p.Tyr2514*) have been observed in individuals affected with ataxia-telangiectasia (PMID: 9792409). Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.

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