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
Invitae RCV000546281 SCV000622258 pathogenic Ataxia-telangiectasia syndrome 2019-10-25 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.
Ambry Genetics RCV000564972 SCV000660481 pathogenic Hereditary cancer-predisposing syndrome 2018-02-22 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Counsyl RCV000546281 SCV000678176 likely pathogenic Ataxia-telangiectasia syndrome 2017-01-05 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.
Fulgent Genetics,Fulgent Genetics RCV000762814 SCV000893172 pathogenic Familial cancer of breast; Ataxia-telangiectasia syndrome 2018-10-31 criteria provided, single submitter clinical testing
Color RCV000564972 SCV000910321 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing

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