ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7921C>T (p.Gln2641Ter) (rs769523686)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000574436 SCV000665592 pathogenic Hereditary cancer-predisposing syndrome 2018-04-02 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)
GeneDx RCV000657754 SCV000779506 likely pathogenic not provided 2018-02-19 criteria provided, single submitter clinical testing This variant is denoted ATM c.7921C>T at the cDNA level and p.Gln2641Ter (Q2641X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG), 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 as a pathogenic or benign germline variant, it is considered likely pathogenic.
Invitae RCV000628076 SCV000748966 pathogenic Ataxia-telangiectasia syndrome 2018-04-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln2641*) in the ATM gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs769523686, ExAC 0.002%). This variant has not been reported in the literature in individuals with ATM-related disease. 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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