ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.1442T>G (p.Leu481Ter) (rs1555070980)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000564972 SCV000660481 pathogenic Hereditary cancer-predisposing syndrome 2018-02-22 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 RCV000564972 SCV000910321 pathogenic Hereditary cancer-predisposing syndrome 2017-03-23 criteria provided, single submitter clinical testing
Counsyl RCV000546281 SCV000678176 likely pathogenic Ataxia-telangiectasia syndrome 2017-01-05 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000762814 SCV000893172 pathogenic Familial cancer of breast; Ataxia-telangiectasia syndrome 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000657713 SCV000779462 likely pathogenic not provided 2017-03-16 criteria provided, single submitter clinical testing This variant is denoted ATM c.1442T>G at the cDNA level and p.Leu481Ter (L481X) at the protein level. The substitution creates a nonsense variant, which changes a Leucine to a premature stop codon (TTA>TGA), 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 likely pathogenic.
Invitae RCV000546281 SCV000622258 pathogenic Ataxia-telangiectasia syndrome 2018-12-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu481*) 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 occurs with a pathogenic variant (p.Glu522Ilefs*43) in ATM in an individual with ataxia-telangiectasia (PMID: 21665257). ClinVar contains an entry for this variant (Variation ID: 453367). 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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