ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.4879C>T (p.Gln1627Ter) (rs886039592)

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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 RCV000575032 SCV000665661 pathogenic Hereditary cancer-predisposing syndrome 2017-03-24 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)
GeneDx RCV000255728 SCV000322485 likely pathogenic not provided 2015-12-28 criteria provided, single submitter clinical testing The Q1627X variant in the ATM gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q1627X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The Q1627X variant is a strong candidate for a pathogenic variant. However, the possibility it may be a rare benign variant cannot be excluded.

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