ClinVar Miner

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

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000464318 SCV000793974 likely pathogenic Ataxia-telangiectasia syndrome 2017-09-05 criteria provided, single submitter clinical testing
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.
Invitae RCV000464318 SCV000546697 pathogenic Ataxia-telangiectasia syndrome 2016-05-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 1440 (p.Lys1440*) of the ATM gene. It is expected to result in an absent or disrupted protein product. Truncating variants in ATM are known to be pathogenic. This particular truncation has been reported as homozygous in an individual with ataxia telangiectasia (PMID: 9711876). For these reasons, this variant has been classified as Pathogenic.

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