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 2020-09-09 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 The p.L481* pathogenic mutation (also known as c.1442T>G), located in coding exon 9 of the ATM gene, results from a T to G substitution at nucleotide position 1442. This changes the amino acid from a leucine to a stop codon within coding exon 9. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Counsyl RCV000546281 SCV000678176 likely pathogenic Ataxia-telangiectasia syndrome 2017-01-05 criteria provided, single submitter clinical testing
GeneDx RCV000657713 SCV000779462 pathogenic not provided 2020-10-28 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek 2016); This variant is associated with the following publications: (PMID: 21665257, 31589614)
Fulgent Genetics,Fulgent Genetics RCV000762814 SCV000893172 pathogenic Familial cancer of breast; Ataxia-telangiectasia syndrome 2018-10-31 criteria provided, single submitter clinical testing
Color Health, Inc RCV000564972 SCV000910321 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing

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