ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5414G>A (p.Trp1805Ter) (rs879254171)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235544 SCV000293705 pathogenic not provided 2015-12-18 criteria provided, single submitter clinical testing This pathogenic variant is denoted ATM c.5414G>A at the cDNA level and p.Trp1805Ter (W1805X) at the protein level. The G>A 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 in at least one individual with a Lynch syndrome associated cancer and/or polyps (Yurgelun 2015). In addition, an alternate nucleotide change resulting in the same nonsense variant has been identified in the compound heterozygous state in an individual with ataxia telangiectasia (Nakamura 2012). This variant is considered pathogenic.
Counsyl RCV000674524 SCV000799874 likely pathogenic Ataxia-telangiectasia syndrome 2018-05-11 criteria provided, single submitter clinical testing
Color RCV001182325 SCV001347748 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing

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