ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.4019_4029del (p.Leu1340fs) (rs1057517140)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410743 SCV000486809 likely pathogenic Ataxia-telangiectasia syndrome 2016-08-12 criteria provided, single submitter clinical testing
Invitae RCV000410743 SCV000547017 pathogenic Ataxia-telangiectasia syndrome 2020-07-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1340Cysfs*10) 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 not been reported in the literature in individuals with ATM-related disease. ClinVar contains an entry for this variant (Variation ID: 371269). 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 RCV000564318 SCV000667837 pathogenic Hereditary cancer-predisposing syndrome 2018-05-04 criteria provided, single submitter clinical testing The c.4019_4029del11 pathogenic mutation, located in coding exon 26 of the ATM gene, results from a deletion of 11 nucleotides between nucleotide positions 4019 and 4029, causing a translational frameshift with a predicted alternate stop codon (p.L1340Cfs*10). 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.

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