ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.157A>T (p.Lys53Ter) (rs876659078)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000588106 SCV000694187 likely pathogenic Ataxia-telangiectasia syndrome 2017-07-14 criteria provided, single submitter clinical testing Variant summary: The ATM c.157A>T (p.Lys53X) variant results in a premature termination codon, predicted to cause a truncated or absent ATM protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as likely pathogenic/pathogenic by our laboratory (e.g. c.237delA (p.Lys79fsX37), c.513C>G (p.Tyr171X), and c.790delT (p.Tyr264fsX12)).This variant is absent in 121026 control chromosomes (ExAC). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Due to the nature of this variant causing a known mechanism for disease, the variant of interest has been classified as "Likely Pathogenic."

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