ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.72+1G>A (rs786204088)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000167987 SCV000218637 pathogenic Ataxia-telangiectasia syndrome 2019-08-21 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 2 of the ATM gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Disruption of this splice site has been observed in several individuals with clinical features of ataxia-telangiectasia and an individual with breast cancer (PMID: 9887333, 30287823, Invitae). ClinVar contains an entry for this variant (Variation ID: 188125). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000167987 SCV000487255 likely pathogenic Ataxia-telangiectasia syndrome 2016-11-01 criteria provided, single submitter clinical testing
Color Health, Inc RCV000777649 SCV000913526 likely pathogenic Hereditary cancer-predisposing syndrome 2018-09-05 criteria provided, single submitter clinical testing
GeneDx RCV001564314 SCV001787461 likely pathogenic not provided 2020-07-14 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek 2016); Observed in individuals with breast cancer (Momozawa 2018); This variant is associated with the following publications: (PMID: 30287823)

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