ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.1463G>A (p.Trp488Ter) (rs879254093)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236088 SCV000293431 pathogenic not provided 2017-04-18 criteria provided, single submitter clinical testing This variant is denoted ATM c.1463G>A at the cDNA level and p.Trp488Ter (W488X) at the protein level. The substitution creates a nonsense variant, which changes a Tryptophan to a premature stop codon (TGG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported patients with classical ataxia-telangiectasia (Cavalieri 2006, Magliozzi 2006, Broccoletti 2011) and is considered pathogenic.
Invitae RCV000476772 SCV000546982 pathogenic Ataxia-telangiectasia syndrome 2019-11-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp488*) 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 been reported in the literature in individuals affected with ataxia-telangiectasia (PMID: 16941484, 17124347). ClinVar contains an entry for this variant (Variation ID: 246090). Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000476772 SCV000800321 pathogenic Ataxia-telangiectasia syndrome 2018-05-31 criteria provided, single submitter clinical testing

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