ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.3320T>A (p.Leu1107Ter) (rs1060501711)

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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 RCV000571628 SCV000665185 pathogenic Hereditary cancer-predisposing syndrome 2016-06-03 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 RCV000571628 SCV000910260 pathogenic Hereditary cancer-predisposing syndrome 2017-06-12 criteria provided, single submitter clinical testing
GeneDx RCV000485900 SCV000564616 pathogenic not provided 2014-11-06 criteria provided, single submitter clinical testing This pathogenic variant is denoted ATM c.3320T>A at the cDNA level and p.Leu1107Ter (L1107X) at the protein level. The substitution creates a nonsense variant, which changes a Leucine to a premature stop codon (TTA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic.
Invitae RCV000460640 SCV000547160 pathogenic Ataxia-telangiectasia syndrome 2018-10-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1107*) in the ATM gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ATM-related disease. ClinVar contains an entry for this variant (Variation ID: 407734). Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.

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