ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.9064dup (p.Glu3022fs) (rs1057516282)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409037 SCV000485408 likely pathogenic Ataxia-telangiectasia syndrome 2015-12-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567742 SCV000668084 pathogenic Hereditary cancer-predisposing syndrome 2018-03-27 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Invitae RCV000409037 SCV001218392 pathogenic Ataxia-telangiectasia syndrome 2019-12-05 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the ATM gene (p.Glu3022Glyfs*41). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 35 amino acids of the ATM protein and extend the protein by an additional 5 amino acids. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with ataxia-telangiectasia (PMID: 12552559). ClinVar contains an entry for this variant (Variation ID: 370165). This variant disrupts the C-terminus of the ATM protein. Other variant(s) that disrupt this region (p.Arg3047*) have been determined to be pathogenic (PMID: 8755918, 19691550, 18560558, 10980530, 26628246). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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