ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.67C>T (p.Arg23Ter) (rs746235533)

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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 RCV000215307 SCV000276332 pathogenic Hereditary cancer-predisposing syndrome 2019-03-01 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
GeneDx RCV000579150 SCV000680683 pathogenic not provided 2018-03-12 criteria provided, single submitter clinical testing This variant is denoted ATM c.67C>T at the cDNA level and p.Arg23Ter (R23X) at the protein level. Thesubstitution creates a nonsense variant, which changes an Arginine to a premature stop codon (CGA>TGA), and ispredicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay.This variant has been observed in at least one individual with mantle cell lymphoma and one individual with gastriccancer (Camacho 2002, Huang 2015). We consider this variant to be pathogenic
Invitae RCV000627840 SCV000748724 pathogenic Ataxia-telangiectasia syndrome 2019-11-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg23*) in the ATM gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs746235533, ExAC 0.006%). This variant has been observed in individuals with lymphoma, gastric cancer, and medulloblastoma (PMID: 11756177, 26506520, 29753700). ClinVar contains an entry for this variant (Variation ID: 232248). Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.
Color RCV000215307 SCV000913525 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing

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