ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.3756T>A (p.Tyr1252Ter) (rs886039637)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000569538 SCV000665654 pathogenic Hereditary cancer-predisposing syndrome 2017-03-02 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)
Color RCV000569538 SCV000903427 pathogenic Hereditary cancer-predisposing syndrome 2017-08-04 criteria provided, single submitter clinical testing
Counsyl RCV000665264 SCV000789355 likely pathogenic Ataxia-telangiectasia syndrome 2017-01-26 criteria provided, single submitter clinical testing
GeneDx RCV000255522 SCV000322565 likely pathogenic not provided 2017-12-12 criteria provided, single submitter clinical testing This variant is denoted ATM c.3756T>A at the cDNA level and p.Tyr1252Ter (Y1252X) at the protein level. The substitution creates a nonsense variant, which changes a Tyrosine to a premature stop codon (TAT>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has not, to our knowledge, been published in the literature as a germline variant; however, it has been reported as a somatic variant in a leiomyosarcoma (Helsten 2015). Based on currently available evidence, we consider this variant to be likely pathogenic.

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