ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7858del (p.Val2620fs) (rs1555125349)

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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 RCV000570724 SCV000665265 pathogenic Hereditary cancer-predisposing syndrome 2018-04-13 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)
Integrated Genetics/Laboratory Corporation of America RCV000780915 SCV000918563 likely pathogenic Ataxia-telangiectasia syndrome 2018-09-14 criteria provided, single submitter clinical testing Variant summary: ATM c.7858delG (p.Val2620LeufsX11) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. p.Ile2629fsX25, p.Trp2638X, p.Tyr2755fsX12). The variant was absent in 120836 control chromosomes (ExAC). To our knowledge, no occurrence of c.7858delG in individuals affected with Ataxia-Telangiectasia and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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