ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6007dup

dbSNP: rs1555113505
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666047 SCV000790281 likely pathogenic Ataxia-telangiectasia syndrome 2017-03-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000666047 SCV001404450 pathogenic Ataxia-telangiectasia syndrome 2023-07-17 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp2003Glyfs*15) in the ATM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). This variant has not been reported in the literature in individuals affected with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 1331733, 551082). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002352088 SCV002655124 pathogenic Hereditary cancer-predisposing syndrome 2020-03-31 criteria provided, single submitter clinical testing The c.6007dupG pathogenic mutation, located in coding exon 40 of the ATM gene, results from a duplication of G at nucleotide position 6007, causing a translational frameshift with a predicted alternate stop codon (p.D2003Gfs*15). 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.
Myriad Genetics, Inc. RCV004026089 SCV004931645 pathogenic Familial cancer of breast 2024-01-26 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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