ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7240C>T (p.Gln2414Ter) (rs863224462)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492913 SCV000581475 pathogenic Hereditary cancer-predisposing syndrome 2016-11-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Invitae RCV000200187 SCV000253744 pathogenic Ataxia-telangiectasia syndrome 2018-09-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 2414 (p.Gln2414*) of the ATM gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in ATM are known to be pathogenic (PMID: 10817650, 19781682). For these reasons, this variant has been classified as Pathogenic.

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