ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.4318A>T (p.Lys1440Ter) (rs1060501551)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000464318 SCV000546697 pathogenic Ataxia-telangiectasia syndrome 2019-07-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys1440*) 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 as homozygous in the literature in individuals affected with ataxia telangiectasia (PMID: 9711876). ClinVar contains an entry for this variant (Variation ID: 407482). Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000657607 SCV000779349 pathogenic not provided 2018-02-28 criteria provided, single submitter clinical testing This variant is denoted ATM c.4318A>T at the cDNA level and p.Lys1440Ter (K1440X) at the protein level. The substitution creates a nonsense variant, which changes a Lysine to a premature stop codon (AAA>TAA), 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 the homozygous state in an individual with ataxia telangiectasia (Sasaki 1998). We consider ATM Lys1440Ter to be pathogenic.
Counsyl RCV000464318 SCV000793974 likely pathogenic Ataxia-telangiectasia syndrome 2017-09-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV001022283 SCV001183998 pathogenic Hereditary cancer-predisposing syndrome 2019-07-08 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Rarity in general population databases (dbsnp, esp, 1000 genomes)
Color RCV001022283 SCV001351778 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing

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